2-102782563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782563
    reference: chr 2
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.311-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+799C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.297-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.55-10C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.487-10C>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-102782564-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782564
    reference: chr 2
allele count: 12
allele frequency: 9.96710854181202e-5
allele num: 120396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+800T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.311-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.297-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.487-9T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.55-9T>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-102782566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782566
    reference: chr 2
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+802T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.297-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.311-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.487-7T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.55-7T>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.487-7T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

2-102782567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782567
    reference: chr 2
allele count: 216
allele frequency: 1.792352628783856e-3
allele num: 120512
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.311-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.297-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.55-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.487-6A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+803A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21339
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 19187
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: c.487-6A>G
num of homozygotes: 1
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-102782569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782569
    reference: chr 2
allele count: 4
allele frequency: 3.316419593406958e-5
allele num: 120612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.311-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.55-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.297-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+805C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.487-4C>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.487-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-102782575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782575
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.489T>C
  hgvsp: ENST00000424272.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+811T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.489T>C
  hgvsp: ENST00000409929.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.313T>C
  hgvsp: ENSP00000390349.2:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.489T>C
  hgvsp: ENST00000409288.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.299T>C
  hgvsp: ENSP00000407017.1:p.Ile100Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.489T>C
  hgvsp: ENST00000430171.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.489T>C
  hgvsp: ENST00000233946.3:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.57T>C
  hgvsp: ENST00000428279.1:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.489T>C
  hgvsp: ENST00000409329.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.489T>C
  hgvsp: ENST00000410023.1:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile105Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-102782581-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782581
    reference: chr 2
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+817A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.63A>T
  hgvsp: ENSP00000410461.1:p.Lys21Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.305A>T
  hgvsp: ENSP00000407017.1:p.Asn102Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.495A>T
  hgvsp: ENSP00000233946.3:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.495A>T
  hgvsp: ENSP00000386776.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.495A>T
  hgvsp: ENSP00000386478.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.319A>T
  hgvsp: ENSP00000390349.2:p.Asn107Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.495A>T
  hgvsp: ENSP00000386380.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.495A>T
  hgvsp: ENSP00000415366.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.495A>T
  hgvsp: ENSP00000408101.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.495A>T
  hgvsp: ENSP00000387131.1:p.Lys165Asn
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys165Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-102782588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782588
    reference: chr 2
allele count: 3
allele frequency: 2.477127852825577e-5
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.502C>T
  hgvsp: ENSP00000386380.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.502C>T
  hgvsp: ENSP00000386478.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.502C>T
  hgvsp: ENSP00000387131.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.502C>T
  hgvsp: ENSP00000408101.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.502C>T
  hgvsp: ENSP00000415366.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.326C>T
  hgvsp: ENST00000422532.2:c.326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.502C>T
  hgvsp: ENSP00000233946.3:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+824C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.312C>T
  hgvsp: ENST00000413623.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.70C>T
  hgvsp: ENSP00000410461.1:p.Leu24Phe
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.502C>T
  hgvsp: ENSP00000386776.1:p.Leu168Phe
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu168Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-102782589-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782589
    reference: chr 2
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.313T>G
  hgvsp: ENSP00000407017.1:p.Phe105Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.503T>G
  hgvsp: ENSP00000386776.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.503T>G
  hgvsp: ENSP00000387131.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.503T>G
  hgvsp: ENSP00000415366.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+825T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.503T>G
  hgvsp: ENSP00000386478.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.503T>G
  hgvsp: ENSP00000233946.3:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.327T>G
  hgvsp: ENSP00000390349.2:p.Phe110Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.71T>G
  hgvsp: ENSP00000410461.1:p.Leu24Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.503T>G
  hgvsp: ENSP00000408101.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.503T>G
  hgvsp: ENSP00000386380.1:p.Leu168Arg
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu168Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-102782600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782600
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.514A>G
  hgvsp: ENSP00000408101.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.514A>G
  hgvsp: ENSP00000415366.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.514A>G
  hgvsp: ENSP00000386380.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+836A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.338A>G
  hgvsp: ENSP00000390349.2:p.Ile113Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.324A>G
  hgvsp: ENSP00000407017.1:p.Ile108Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.514A>G
  hgvsp: ENSP00000233946.3:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.514A>G
  hgvsp: ENSP00000386478.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.514A>G
  hgvsp: ENSP00000386776.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.82A>G
  hgvsp: ENSP00000410461.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.514A>G
  hgvsp: ENSP00000387131.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile172Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

2-102782604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782604
    reference: chr 2
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.518A>G
  hgvsp: ENSP00000386478.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.342A>G
  hgvsp: ENSP00000390349.2:p.Thr115Ala
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.518A>G
  hgvsp: ENSP00000233946.3:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.328A>G
  hgvsp: ENSP00000407017.1:p.Thr110Ala
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.518A>G
  hgvsp: ENSP00000386380.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+840A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.518A>G
  hgvsp: ENSP00000387131.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.518A>G
  hgvsp: ENSP00000408101.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.518A>G
  hgvsp: ENSP00000415366.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.86A>G
  hgvsp: ENSP00000410461.1:p.His29Arg
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.518A>G
  hgvsp: ENSP00000386776.1:p.His173Arg
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His173Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/2-102782604-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782604
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.328A>C
  hgvsp: ENSP00000407017.1:p.Thr110Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.518A>C
  hgvsp: ENSP00000386478.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.518A>C
  hgvsp: ENSP00000415366.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.518A>C
  hgvsp: ENSP00000408101.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.518A>C
  hgvsp: ENSP00000386776.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.518A>C
  hgvsp: ENSP00000233946.3:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.86A>C
  hgvsp: ENSP00000410461.1:p.His29Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+840A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.518A>C
  hgvsp: ENSP00000387131.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.342A>C
  hgvsp: ENSP00000390349.2:p.Thr115Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.518A>C
  hgvsp: ENSP00000386380.1:p.His173Pro
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His173Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

2-102782605-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782605
    reference: chr 2
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.519C>G
  hgvsp: ENSP00000415366.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.519C>G
  hgvsp: ENSP00000386478.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.519C>G
  hgvsp: ENSP00000408101.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.519C>G
  hgvsp: ENSP00000386776.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.519C>G
  hgvsp: ENSP00000233946.3:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+841C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.519C>G
  hgvsp: ENSP00000386380.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.329C>G
  hgvsp: ENSP00000407017.1:p.Thr110Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.519C>G
  hgvsp: ENSP00000387131.1:p.His173Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.87C>G
  hgvsp: ENSP00000410461.1:p.His29Gln
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.343C>G
  hgvsp: ENSP00000390349.2:p.Thr115Ser
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His173Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-102782606-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782606
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.88T>A
  hgvsp: ENSP00000410461.1:p.Phe30Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.520T>A
  hgvsp: ENSP00000415366.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.520T>A
  hgvsp: ENSP00000386478.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.520T>A
  hgvsp: ENSP00000387131.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+842T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.520T>A
  hgvsp: ENSP00000386380.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.520T>A
  hgvsp: ENSP00000233946.3:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.520T>A
  hgvsp: ENSP00000408101.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.344T>A
  hgvsp: ENST00000422532.2:c.344T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.330T>A
  hgvsp: ENST00000413623.1:c.330T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.520T>A
  hgvsp: ENSP00000386776.1:p.Phe174Ile
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe174Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-102782608-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782608
    reference: chr 2
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.522T>C
  hgvsp: ENST00000409929.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.522T>C
  hgvsp: ENST00000409329.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.346T>C
  hgvsp: ENSP00000390349.2:p.Leu116Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.332T>C
  hgvsp: ENSP00000407017.1:p.Leu111Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.522T>C
  hgvsp: ENST00000409288.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+844T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.522T>C
  hgvsp: ENST00000424272.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.90T>C
  hgvsp: ENST00000428279.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.522T>C
  hgvsp: ENST00000430171.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.522T>C
  hgvsp: ENST00000410023.1:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.522T>C
  hgvsp: ENST00000233946.3:c.522T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu116Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-102782622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782622
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782622
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.536A>G
  hgvsp: ENSP00000408101.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.536A>G
  hgvsp: ENSP00000386478.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.536A>G
  hgvsp: ENSP00000386776.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.360A>G
  hgvsp: ENSP00000390349.2:p.Ile121Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.536A>G
  hgvsp: ENSP00000233946.3:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.536A>G
  hgvsp: ENSP00000387131.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.346A>G
  hgvsp: ENSP00000407017.1:p.Ile116Val
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.104A>G
  hgvsp: ENSP00000410461.1:p.Asp35Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.536A>G
  hgvsp: ENSP00000415366.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+858A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.536A>G
  hgvsp: ENSP00000386380.1:p.Asp179Gly
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp179Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-102782623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782623
    reference: chr 2
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.361T>C
  hgvsp: ENSP00000390349.2:p.Ile121Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.105T>C
  hgvsp: ENST00000428279.1:c.105T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.537T>C
  hgvsp: ENST00000233946.3:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.537T>C
  hgvsp: ENST00000409329.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.347T>C
  hgvsp: ENSP00000407017.1:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.537T>C
  hgvsp: ENST00000430171.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.537T>C
  hgvsp: ENST00000410023.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.537T>C
  hgvsp: ENST00000409288.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+859T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.537T>C
  hgvsp: ENST00000424272.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.537T>C
  hgvsp: ENST00000409929.1:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile121Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-102782632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782632
    reference: chr 2
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.370C>T
  hgvsp: ENSP00000390349.2:p.Ser124Leu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+868C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.114C>T
  hgvsp: ENST00000428279.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.356C>T
  hgvsp: ENSP00000407017.1:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.546C>T
  hgvsp: ENST00000430171.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.546C>T
  hgvsp: ENST00000424272.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.546C>T
  hgvsp: ENST00000409329.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.546C>T
  hgvsp: ENST00000410023.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.546C>T
  hgvsp: ENST00000233946.3:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.546C>T
  hgvsp: ENST00000409929.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.546C>T
  hgvsp: ENST00000409288.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser124Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-102782633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782633
    reference: chr 2
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.547G>A
  hgvsp: ENSP00000386478.1:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.547G>A
  hgvsp: ENSP00000233946.3:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.547G>A
  hgvsp: ENSP00000387131.1:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+869G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.547G>A
  hgvsp: ENSP00000386776.1:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000408101
  ensembl transcript: ENST00000430171
  gene symbol: IL1R1
  hgvsc: ENST00000430171.1:c.547G>A
  hgvsp: ENST00000430171.1:c.547G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.115G>A
  hgvsp: ENSP00000410461.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.547G>A
  hgvsp: ENSP00000386380.1:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.371G>A
  hgvsp: ENST00000422532.2:c.371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.547G>A
  hgvsp: ENSP00000415366.1:p.Val183Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.357G>A
  hgvsp: ENST00000413623.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val183Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-102782633-GTGAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782629
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.548_551delTGAT
  hgvsp: ENSP00000387131.1:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.548_551delTGAT
  hgvsp: ENSP00000415366.1:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.372_*1delTGAT
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.548_551delTGAT
  hgvsp: ENSP00000386776.1:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.548_551delTGAT
  hgvsp: ENSP00000233946.3:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.548_551delTGAT
  hgvsp: ENSP00000386478.1:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.116_119delTGAT
  hgvsp: ENSP00000410461.1:p.Val39GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.548_551delTGAT
  hgvsp: ENSP00000386380.1:p.Val183GlyfsTer29
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.358_*1delTGAT
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+870_486+873delTGAT
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val183GlyfsTer29
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: GTGAT
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-102782650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782650
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.564A>G
  hgvsp: ENST00000409929.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+886A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.564A>G
  hgvsp: ENST00000409288.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.564A>G
  hgvsp: ENST00000410023.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.564A>G
  hgvsp: ENST00000424272.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.132A>G
  hgvsp: ENST00000428279.1:c.132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*14A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*14A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.564A>G
  hgvsp: ENST00000409329.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.564A>G
  hgvsp: ENST00000233946.3:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu188Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-102782653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782653
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.567G>C
  hgvsp: ENSP00000386478.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.567G>C
  hgvsp: ENSP00000415366.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.135G>C
  hgvsp: ENSP00000410461.1:p.Lys45Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.567G>C
  hgvsp: ENSP00000233946.3:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*17G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.567G>C
  hgvsp: ENSP00000387131.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.567G>C
  hgvsp: ENSP00000386776.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+889G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.567G>C
  hgvsp: ENSP00000386380.1:p.Lys189Asn
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys189Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-102782663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782663
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.577A>G
  hgvsp: ENSP00000386380.1:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.577A>G
  hgvsp: ENSP00000386776.1:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.577A>G
  hgvsp: ENSP00000415366.1:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*27A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+899A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.577A>G
  hgvsp: ENSP00000233946.3:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.577A>G
  hgvsp: ENSP00000387131.1:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.145A>G
  hgvsp: ENSP00000410461.1:p.Asn49Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.577A>G
  hgvsp: ENSP00000386478.1:p.Asn193Asp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*27A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn193Asp
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-102782674-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782674
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.588T>C
  hgvsp: ENST00000409929.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.588T>C
  hgvsp: ENST00000424272.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.156T>C
  hgvsp: ENST00000428279.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.588T>C
  hgvsp: ENST00000233946.3:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.588T>C
  hgvsp: ENST00000409288.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*38T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.588T>C
  hgvsp: ENST00000410023.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.588T>C
  hgvsp: ENST00000409329.1:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+910T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*38T>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Cys196Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-102782680-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782680
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782680
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.162A>C
  hgvsp: ENST00000428279.1:c.162A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.594A>C
  hgvsp: ENST00000410023.1:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.594A>C
  hgvsp: ENST00000409288.1:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+916A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.594A>C
  hgvsp: ENST00000409329.1:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.594A>C
  hgvsp: ENST00000233946.3:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*44A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.594A>C
  hgvsp: ENST00000424272.1:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*44A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.594A>C
  hgvsp: ENST00000409929.1:c.594A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala198Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-102782687-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782687
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.601A>C
  hgvsp: ENSP00000386380.1:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.601A>C
  hgvsp: ENSP00000386776.1:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.601A>C
  hgvsp: ENSP00000386478.1:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.601A>C
  hgvsp: ENSP00000415366.1:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.169A>C
  hgvsp: ENSP00000410461.1:p.Thr57Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.601A>C
  hgvsp: ENSP00000233946.3:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+923A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.601A>C
  hgvsp: ENSP00000387131.1:p.Thr201Pro
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*51A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*51A>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr201Pro
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

2-102782689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782689
    reference: chr 2
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+925A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.603A>G
  hgvsp: ENST00000409288.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.603A>G
  hgvsp: ENST00000410023.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.603A>G
  hgvsp: ENST00000409329.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.603A>G
  hgvsp: ENST00000409929.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.603A>G
  hgvsp: ENST00000233946.3:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.603A>G
  hgvsp: ENST00000424272.1:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*53A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.171A>G
  hgvsp: ENST00000428279.1:c.171A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*53A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr201Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-102782690-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782690
    reference: chr 2
allele count: 215
allele frequency: 1.77202670403033e-3
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+926T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.604T>C
  hgvsp: ENSP00000233946.3:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.172T>C
  hgvsp: ENSP00000410461.1:p.Tyr58His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.604T>C
  hgvsp: ENSP00000387131.1:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.604T>C
  hgvsp: ENSP00000386776.1:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*54T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.604T>C
  hgvsp: ENSP00000415366.1:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.604T>C
  hgvsp: ENSP00000386478.1:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.604T>C
  hgvsp: ENSP00000386380.1:p.Tyr202His
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*54T>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 22067
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr202His
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-102782693-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782693
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.607T>A
  hgvsp: ENSP00000386380.1:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*57T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.607T>A
  hgvsp: ENSP00000415366.1:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*57T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+929T>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.607T>A
  hgvsp: ENSP00000386478.1:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.175T>A
  hgvsp: ENSP00000410461.1:p.Leu59Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.607T>A
  hgvsp: ENSP00000387131.1:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.607T>A
  hgvsp: ENSP00000233946.3:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.607T>A
  hgvsp: ENSP00000386776.1:p.Leu203Met
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu203Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-102782698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782698
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*62C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*62C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.612C>T
  hgvsp: ENST00000409929.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.612C>T
  hgvsp: ENST00000233946.3:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.612C>T
  hgvsp: ENST00000409329.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.612C>T
  hgvsp: ENST00000409288.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+934C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.612C>T
  hgvsp: ENST00000424272.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.612C>T
  hgvsp: ENST00000410023.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.180C>T
  hgvsp: ENST00000428279.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly204Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-102782702-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782702
    reference: chr 2
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.616C>A
  hgvsp: ENSP00000233946.3:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.616C>A
  hgvsp: ENSP00000386478.1:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.616C>A
  hgvsp: ENSP00000415366.1:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.184C>A
  hgvsp: ENSP00000410461.1:p.Gln62Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.616C>A
  hgvsp: ENSP00000387131.1:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.616C>A
  hgvsp: ENSP00000386776.1:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+938C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.616C>A
  hgvsp: ENSP00000386380.1:p.Gln206Lys
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*66C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*66C>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln206Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

2-102782717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782717
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782717
    reference: chr 2
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.631C>T
  hgvsp: ENSP00000386478.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.631C>T
  hgvsp: ENSP00000415366.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.631C>T
  hgvsp: ENSP00000386776.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*81C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.631C>T
  hgvsp: ENSP00000233946.3:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*81C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.631C>T
  hgvsp: ENSP00000387131.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.631C>T
  hgvsp: ENSP00000386380.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+953C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.199C>T
  hgvsp: ENSP00000410461.1:p.Arg67Trp
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg211Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-102782722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782722
    reference: chr 2
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*86A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.636A>G
  hgvsp: ENST00000409329.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.636A>G
  hgvsp: ENST00000410023.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.636A>G
  hgvsp: ENST00000424272.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.636A>G
  hgvsp: ENST00000409288.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.204A>G
  hgvsp: ENST00000428279.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*86A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.636A>G
  hgvsp: ENST00000233946.3:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+958A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.636A>G
  hgvsp: ENST00000409929.1:c.636A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val212Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

2-102782734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782734
    reference: chr 2
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.648T>C
  hgvsp: ENST00000409288.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.648T>C
  hgvsp: ENST00000409329.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*98T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.648T>C
  hgvsp: ENST00000424272.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.648T>C
  hgvsp: ENST00000233946.3:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.216T>C
  hgvsp: ENST00000428279.1:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+970T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*98T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.648T>C
  hgvsp: ENST00000409929.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.648T>C
  hgvsp: ENST00000410023.1:c.648T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile216Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-102782742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782742
    reference: chr 2
allele count: 1
allele frequency: 8.357989402069439e-6
allele num: 119646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+978G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+1G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+1G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
hgvs: c.655+1G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-102782750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782750
    reference: chr 2
allele count: 2
allele frequency: 1.678810059429876e-5
allele num: 119132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+986T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+9T>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+9T>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

2-102782758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782758
    reference: chr 2
allele count: 1
allele frequency: 8.441953130276222e-6
allele num: 118456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+994G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+17G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-102782767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782767
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782767
    reference: chr 2
allele count: 4
allele frequency: 3.391152483171406e-5
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1003G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+26G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+26G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-102782773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782773
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782773
    reference: chr 2
allele count: 3
allele frequency: 2.553582676495123e-5
allele num: 117482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1009G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+32G>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-102782775-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782775
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782775
    reference: chr 2
allele count: 1
allele frequency: 8.530385232197085e-6
allele num: 117228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1011T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+34T>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-102782783-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782783
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782783
    reference: chr 2
allele count: 7
allele frequency: 6.025237136118714e-5
allele num: 116178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1019G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+42G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+42G>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-102782786-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782786
    reference: chr 2
allele count: 2
allele frequency: 1.731092146034933e-5
allele num: 115534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1022C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+45C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+45C>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-102782786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102782786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102782786
    reference: chr 2
allele count: 3
allele frequency: 2.5966382190524e-5
allele num: 115534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*105+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*105+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.223+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+1022C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.655+45C>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5407
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-102785011-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785011
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3247T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-47T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-47T>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-102785015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785015
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3251A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-43A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

2-102785015-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785015
    reference: chr 2
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3251A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-43A>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-102785019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785019
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3255A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-39A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-39A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-102785023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785023
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3259G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-35G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-102785025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785025
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3261G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-33G>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-102785033-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785033
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3269A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-25A>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-25A>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-102785033-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785033
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3269A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-25A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-102785036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785036
    reference: chr 2
allele count: 29
allele frequency: 2.391042659499035e-4
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3272C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-22C>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-102785037-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785037
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785037
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3273T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-21T>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-21T>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-102785041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785041
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3277G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-17G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-17G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9208
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-102785042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785042
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.224-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3278G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*106-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*106-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.656-16G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-102785064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785064
    reference: chr 2
allele count: 19
allele frequency: 1.567449841605069e-4
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.662A>G
  hgvsp: ENSP00000386776.1:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.662A>G
  hgvsp: ENSP00000415366.1:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.662A>G
  hgvsp: ENSP00000387131.1:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*112A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.662A>G
  hgvsp: ENSP00000386478.1:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3300A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.662A>G
  hgvsp: ENSP00000233946.3:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.662A>G
  hgvsp: ENSP00000386380.1:p.Asn221Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.230A>G
  hgvsp: ENSP00000410461.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*112A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn221Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-102785069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785069
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*117C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.667C>A
  hgvsp: ENSP00000386478.1:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.667C>A
  hgvsp: ENSP00000387131.1:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.667C>A
  hgvsp: ENSP00000386776.1:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.235C>A
  hgvsp: ENSP00000410461.1:p.Pro79Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.667C>A
  hgvsp: ENSP00000415366.1:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.667C>A
  hgvsp: ENSP00000386380.1:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.667C>A
  hgvsp: ENSP00000233946.3:p.Pro223Thr
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*117C>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3305C>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro223Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-102785089-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785089
    reference: chr 2
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.255G>C
  hgvsp: ENST00000428279.1:c.255G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.687G>C
  hgvsp: ENST00000424272.1:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.687G>C
  hgvsp: ENST00000409329.1:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.687G>C
  hgvsp: ENST00000233946.3:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.687G>C
  hgvsp: ENST00000410023.1:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.687G>C
  hgvsp: ENST00000409929.1:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*137G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3325G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*137G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.687G>C
  hgvsp: ENST00000409288.1:c.687G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val229Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-102785092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785092
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785092
    reference: chr 2
allele count: 6
allele frequency: 4.95564695971059e-5
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.690C>T
  hgvsp: ENST00000409329.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.690C>T
  hgvsp: ENST00000409929.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.258C>T
  hgvsp: ENST00000428279.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.690C>T
  hgvsp: ENST00000424272.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*140C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.690C>T
  hgvsp: ENST00000409288.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.690C>T
  hgvsp: ENST00000233946.3:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3328C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*140C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.690C>T
  hgvsp: ENST00000410023.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser230Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

2-102785118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785118
    reference: chr 2
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.284A>G
  hgvsp: ENSP00000410461.1:p.Asp95Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.716A>G
  hgvsp: ENSP00000233946.3:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.716A>G
  hgvsp: ENSP00000386380.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.716A>G
  hgvsp: ENSP00000386776.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*166A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*166A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3354A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.716A>G
  hgvsp: ENSP00000415366.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.716A>G
  hgvsp: ENSP00000387131.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.716A>G
  hgvsp: ENSP00000386478.1:p.Asp239Gly
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp239Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-102785119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785119
    reference: chr 2
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*167C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.285C>G
  hgvsp: ENSP00000410461.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*167C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.717C>G
  hgvsp: ENSP00000386478.1:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3355C>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.717C>G
  hgvsp: ENSP00000386776.1:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.717C>G
  hgvsp: ENSP00000415366.1:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.717C>G
  hgvsp: ENSP00000387131.1:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.717C>G
  hgvsp: ENSP00000386380.1:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.717C>G
  hgvsp: ENSP00000233946.3:p.Asp239Glu
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp239Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-102785122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785122
    reference: chr 2
allele count: 1
allele frequency: 8.268973158913126e-6
allele num: 120934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3358G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*170G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.720G>A
  hgvsp: ENST00000424272.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.720G>A
  hgvsp: ENST00000233946.3:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.720G>A
  hgvsp: ENST00000410023.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.288G>A
  hgvsp: ENST00000428279.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.720G>A
  hgvsp: ENST00000409929.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.720G>A
  hgvsp: ENST00000409329.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.720G>A
  hgvsp: ENST00000409288.1:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.720G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-102785127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785127
    reference: chr 2
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3363A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+4A>G
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+4A>G
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 7.25e1
  variant carriers: 0
hgvs: c.721+4A>G
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-102785128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785128
    reference: chr 2
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+5G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3364G>A
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+5G>A
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
hgvs: c.721+5G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-102785142-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785142
    reference: chr 2
allele count: 2177
allele frequency: 1.804931434161872e-2
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3378G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+19G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+19G>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 8.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 4.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 6.25e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 5.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 6.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 5.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 7.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 9.75e1
  variant carriers: 551
genotype quality: GenotypeQuality
  all individuals: 17631
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 159
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-102785144-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785144
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785144
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3380G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+21G>C
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9319
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-102785144-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785144
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785144
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3380G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+21G>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

2-102785156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785156
    reference: chr 2
allele count: 6
allele frequency: 5.553395901593825e-5
allele num: 108042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3392C>T
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+33C>T
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-102785156-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102785156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 102785155
    reference: chr 2
allele count: 4587
allele frequency: 4.245571166768479e-2
allele num: 108042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000387131
  ensembl transcript: ENST00000409329
  gene symbol: IL1R1
  hgvsc: ENST00000409329.1:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000233946
  ensembl transcript: ENST00000233946
  gene symbol: IL1R1
  hgvsc: ENST00000233946.3:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386478
  ensembl transcript: ENST00000409288
  gene symbol: IL1R1
  hgvsc: ENST00000409288.1:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000390349
  ensembl transcript: ENST00000422532
  gene symbol: IL1R1
  hgvsc: ENST00000422532.2:c.*171+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000407017
  ensembl transcript: ENST00000413623
  gene symbol: IL1R1
  hgvsc: ENST00000413623.1:c.*171+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000410461
  ensembl transcript: ENST00000428279
  gene symbol: IL1R1
  hgvsc: ENST00000428279.1:c.289+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386555
  ensembl transcript: ENST00000409589
  gene symbol: IL1R1
  hgvsc: ENST00000409589.1:c.486+3394delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386380
  ensembl transcript: ENST00000410023
  gene symbol: IL1R1
  hgvsc: ENST00000410023.1:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000415366
  ensembl transcript: ENST00000424272
  gene symbol: IL1R1
  hgvsc: ENST00000424272.1:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115594
  ensembl protein: ENSP00000386776
  ensembl transcript: ENST00000409929
  gene symbol: IL1R1
  hgvsc: ENST00000409929.1:c.721+35delG
  variant of: http://identifiers.org/hgnc/5993
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 29
num of homozygotes: 7
reference allele: CG

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

DP
type: SiteQuality
SIO_000300: 1.793701e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.072e1

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5504
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.809136137494347e-4
allele num: 66330
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.216e0

FS
type: SiteQuality
SIO_000300: 4.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.794605e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeDepth
all individuals: 275
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 2.726e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.795581e6

QD
type: SiteQuality
SIO_000300: 1.573e1

GenotypeDepth
all individuals: 439
bin: 6.25e1
variant carriers: 13

GenotypeDepth
all individuals: 155
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 853
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5646
bin: 9.75e1
variant carriers: 216

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.066120715802245e-4
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.065857885615251e-4
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.608711793094914e-3
allele num: 16162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 176
allele frequency: 2.652280056662347e-3
allele num: 66358
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.801971e6

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.937608990505716e-4
allele num: 10322
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

VQSLOD
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SIO_000300: 1.46e0

ClippingRankSum
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SIO_000300: -7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

FS
type: SiteQuality
SIO_000300: 8.77e-1

ReadPosRankSum
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SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.80307e6

QD
type: SiteQuality
SIO_000300: 1.029e1

BaseQRankSum
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SIO_000300: -1.656e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

FS
type: SiteQuality
SIO_000300: 6.276e0

DP
type: SiteQuality
SIO_000300: 1.806899e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.72e-1

ReadPosRankSum
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SIO_000300: -1.992e0

VQSLOD
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SIO_000300: -1.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.809761e6

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.812231e6

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
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SIO_000300: 4.27e-1

FS
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SIO_000300: 1.076e0

QD
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SIO_000300: 1.013e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.577e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1184
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
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FS
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SIO_000300: 2.178e0

MQRankSum
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
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FS
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SIO_000300: 2.932e0

DP
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ReadPosRankSum
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
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SIO_000300: 3.8e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000930288389401e-5
allele num: 66646
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
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MQRankSum
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SIO_000300: 6.07e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -3.86e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

DP
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SIO_000300: 1.814656e6

FS
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
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SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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allele frequency: 1.5004651441947e-5
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele num: 6604
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Other
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6604
num of homozygotes: 0

African
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East Asian
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Latino
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South Asian
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Other
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European (Non-Finnish)
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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QD
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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QD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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East Asian
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Other
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Latino
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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African
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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DP
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MQRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
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East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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ClippingRankSum
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SIO_000300: 2.31e-1

VQSLOD
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SIO_000300: 2.77e0

InbreedingCoeff
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SIO_000300: 3.0e-4

MQRankSum
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SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.816302e6

FS
type: SiteQuality
SIO_000300: 2.437e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQ
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SIO_000300: 5.931e1

VQSLOD
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SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 2.437e0

ClippingRankSum
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SIO_000300: 2.31e-1

BaseQRankSum
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SIO_000300: -3.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.816302e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.85e0

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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SIO_000300: 1.8165e6

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 1.995e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.905e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.21e0

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.816619e6

MQ
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SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 8.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

DP
type: SiteQuality
SIO_000300: 1.816709e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

DP
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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SIO_000300: 9.409999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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African
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MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

VQSLOD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
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allele num: 11570
num of homozygotes: 0

Other
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South Asian
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East Asian
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allele num: 8652
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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DP
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SIO_000300: 1.816273e6

BaseQRankSum
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SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 9.135e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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QD
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FS
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 26
allele frequency: 1.57537566650509e-3
allele num: 16504
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.050129645635263e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 179
allele frequency: 2.684302081458821e-3
allele num: 66684
num of homozygotes: 1

European (Finnish)
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allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -1.66e-1

InbreedingCoeff
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SIO_000300: 3.1e-3

VQSLOD
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QD
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SIO_000300: 1.39e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.33e-1

MQ
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SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.821387e6

ReadPosRankSum
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SIO_000300: 6.4e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

BaseQRankSum
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SIO_000300: 8.38e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -1.222e0

FS
type: SiteQuality
SIO_000300: 1.465e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
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DP
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SIO_000300: 1.80987e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.056e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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SIO_000300: 6.929999999999999e-1

DP
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MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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Other
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Other
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African
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allele count: 0
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66478
num of homozygotes: 0

Latino
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African
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South Asian
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Other
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East Asian
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European (Finnish)
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FS
type: SiteQuality
SIO_000300: 3.425e0

DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507613447911955e-5
allele num: 66330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

FS
type: SiteQuality
SIO_000300: 1.1589e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.802e1

DP
type: SiteQuality
SIO_000300: 1.789137e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.985e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.43915003219575e-5
allele num: 15530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.652e0

MQRankSum
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SIO_000300: -1.194e0

ClippingRankSum
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SIO_000300: -1.194e0

MQ
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.019e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320724065908564e-4
allele num: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.302e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
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SIO_000300: 6.1e-3

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.707807888382076e-5
allele num: 14908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.731844e6

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.056e1

QD
type: SiteQuality
SIO_000300: 4.46e0

GenotypeQuality
all individuals: 2390
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.107429688215714e-5
allele num: 65494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 6.424e0

DP
type: SiteQuality
SIO_000300: 1.703328e6

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.343e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.590665646518745e-5
allele num: 65350
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
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QD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.02543206407194e-5
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64864
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 5.110981308411214e-4
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BaseQRankSum
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SIO_000300: -2.313e0

MQRankSum
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.09607108579213e-5
allele num: 64598
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 1.595411e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 9.417999999999999e0

ReadPosRankSum
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SIO_000300: -1.46e-1

VQSLOD
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SIO_000300: -2.995e-1

MQRankSum
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SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.145e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64598
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.234803337306317e-4
allele num: 13424
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
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BaseQRankSum
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SIO_000300: -2.282e0

InbreedingCoeff
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SIO_000300: 3.6e-3

ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -1.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.595411e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.400481e6

ReadPosRankSum
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SIO_000300: 6.67e-1

FS
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SIO_000300: 0.0e0

QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
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SIO_000300: 5.959e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.902e1

DP
type: SiteQuality
SIO_000300: 3.400509e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.902e1

ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
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African
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Other
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
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num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
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allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16498
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 5.36e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

European (Finnish)
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Latino
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allele num: 11564
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 2.249887505624719e-4
allele num: 66670
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FS
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11562
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East Asian
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QD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 7.04e-1

MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.159e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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South Asian
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Non-Finnish)
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Other
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East Asian
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.701323648587808e-4
allele num: 66634
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Latino
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South Asian
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Other
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African
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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MQ
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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Other
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BaseQRankSum
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DP
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MQRankSum
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QD
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 8.25e1
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GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9185
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15632
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 3.3957e6

VQSLOD
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

GenotypeQuality
all individuals: 2987
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15632
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3445
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.869220352099052e-4
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.878e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 5.39e-1

DP
type: SiteQuality
SIO_000300: 3.395478e6

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15627
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4000
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variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

DP
type: SiteQuality
SIO_000300: 3.392395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.152e0

QD
type: SiteQuality
SIO_000300: 1.527e1

GenotypeQuality
all individuals: 9160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4000
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
SIO_000300: 1.577e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.801e0

FS
type: SiteQuality
SIO_000300: 3.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.392308e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2985
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18000
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3443
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15625
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variant carriers: 1

GenotypeQuality
all individuals: 1787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 3.391931e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.284e-1

ClippingRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -9.58e-1

FS
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0507e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.146e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 3.391252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.696e0

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2932
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.661454261141517e-3
allele num: 10232
num of homozygotes: 0

Other
type: Population
allele count: 23
allele frequency: 2.549889135254989e-2
allele num: 902
num of homozygotes: 1

South Asian
type: Population
allele count: 133
allele frequency: 8.090024330900242e-3
allele num: 16440
num of homozygotes: 0

East Asian
type: Population
allele count: 1697
allele frequency: 1.970048757836081e-1
allele num: 8614
num of homozygotes: 156

European (Non-Finnish)
type: Population
allele count: 199
allele frequency: 3.00132722007722e-3
allele num: 66304
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.56385751520417e-3
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 90
allele frequency: 1.361161524500907e-2
allele num: 6612
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.292e0

DP
type: SiteQuality
SIO_000300: 3.387128e6

FS
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.275e-1

QD
type: SiteQuality
SIO_000300: 1.487e1

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14141
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 3.331525e6

FS
type: SiteQuality
SIO_000300: 2.155e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.649e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14141
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5117
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 3.331525e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.155e0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

GenotypeQuality
all individuals: 2621
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12995
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14822
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073652566029633e-4
allele num: 9314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.238893545683152e-4
allele num: 9544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.593e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

DP
type: SiteQuality
SIO_000300: 2.708804e6

MQ
type: SiteQuality
SIO_000300: 5.976e1