11-104896968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896968
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896968
    reference: chr 11
allele count: 14
allele frequency: 1.16393142781131e-4
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+601G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+601G>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-104896968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896968
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896968
    reference: chr 11
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+601G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+601G>A
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-104896969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896969
    reference: chr 11
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+600T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+600T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-104896973-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896973
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896973
    reference: chr 11
allele count: 4
allele frequency: 3.321376378371197e-5
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+596T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+596T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-104896976-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896976
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896976
    reference: chr 11
allele count: 5
allele frequency: 4.149515336608684e-5
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+593A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+593A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.*9A>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

11-104896988-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896988
    reference: chr 11
allele count: 19
allele frequency: 1.573655352912919e-4
allele num: 120738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1101T>C
  hgvsp: ENST00000527979.1:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.264T>C
  hgvsp: ENST00000353247.5:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.264T>C
  hgvsp: ENST00000531166.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+581T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1212T>C
  hgvsp: ENST00000533400.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.789T>C
  hgvsp: ENST00000446369.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1149T>C
  hgvsp: ENST00000525825.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1212T>C
  hgvsp: ENST00000598974.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+581T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.264T>C
  hgvsp: ENST00000415981.2:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1149T>C
  hgvsp: ENST00000393136.4:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1212T>C
  hgvsp: ENST00000436863.3:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.789T>C
  hgvsp: ENST00000594519.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.789T>C
  hgvsp: ENST00000534497.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1149T>C
  hgvsp: ENST00000593315.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.933T>C
  hgvsp: ENST00000526568.1:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His404His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-104896990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896990
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896990
    reference: chr 11
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.787C>T
  hgvsp: ENSP00000436875.1:p.His263Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.262C>T
  hgvsp: ENSP00000344132.5:p.His88Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.262C>T
  hgvsp: ENSP00000408446.2:p.His88Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1147C>T
  hgvsp: ENSP00000434779.1:p.His383Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+579C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1210C>T
  hgvsp: ENSP00000410076.3:p.His404Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1210C>T
  hgvsp: ENSP00000433138.1:p.His404Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.262C>T
  hgvsp: ENSP00000434303.1:p.His88Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+579C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1147C>T
  hgvsp: ENSP00000376844.4:p.His383Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1210C>T
  hgvsp: ENSP00000470811.1:p.His404Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.787C>T
  hgvsp: ENSP00000472457.1:p.His263Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.787C>T
  hgvsp: ENSP00000403260.1:p.His263Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1147C>T
  hgvsp: ENSP00000469724.1:p.His383Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1099C>T
  hgvsp: ENSP00000432340.1:p.His367Tyr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.931C>T
  hgvsp: ENSP00000434250.1:p.His311Tyr
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His404Tyr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

11-104896993-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896993
    reference: chr 11
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.259G>C
  hgvsp: ENSP00000434303.1:p.Gly87Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1144G>C
  hgvsp: ENSP00000469724.1:p.Gly382Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.784G>C
  hgvsp: ENSP00000403260.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1207G>C
  hgvsp: ENSP00000433138.1:p.Gly403Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.259G>C
  hgvsp: ENSP00000408446.2:p.Gly87Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.784G>C
  hgvsp: ENSP00000436875.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.928G>C
  hgvsp: ENSP00000434250.1:p.Gly310Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1207G>C
  hgvsp: ENSP00000410076.3:p.Gly403Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.784G>C
  hgvsp: ENSP00000472457.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.259G>C
  hgvsp: ENSP00000344132.5:p.Gly87Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1207G>C
  hgvsp: ENSP00000470811.1:p.Gly403Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1144G>C
  hgvsp: ENSP00000376844.4:p.Gly382Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1096G>C
  hgvsp: ENSP00000432340.1:p.Gly366Arg
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+576G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+576G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1144G>C
  hgvsp: ENSP00000434779.1:p.Gly382Arg
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly403Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

11-104896994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896994
    reference: chr 11
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.783A>G
  hgvsp: ENST00000594519.1:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1143A>G
  hgvsp: ENST00000393136.4:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.258A>G
  hgvsp: ENST00000353247.5:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1206A>G
  hgvsp: ENST00000598974.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.258A>G
  hgvsp: ENST00000415981.2:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1206A>G
  hgvsp: ENST00000533400.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1143A>G
  hgvsp: ENST00000593315.1:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1143A>G
  hgvsp: ENST00000525825.1:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+575A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.783A>G
  hgvsp: ENST00000534497.1:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.783A>G
  hgvsp: ENST00000446369.1:c.783A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1095A>G
  hgvsp: ENST00000527979.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1206A>G
  hgvsp: ENST00000436863.3:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.258A>G
  hgvsp: ENST00000531166.1:c.258A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+575A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.927A>G
  hgvsp: ENST00000526568.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro402Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-104896995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896995
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896995
    reference: chr 11
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.782C>T
  hgvsp: ENSP00000403260.1:p.Pro261Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1142C>T
  hgvsp: ENSP00000434779.1:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+574C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.782C>T
  hgvsp: ENSP00000436875.1:p.Pro261Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1205C>T
  hgvsp: ENSP00000410076.3:p.Pro402Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1142C>T
  hgvsp: ENSP00000376844.4:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.257C>T
  hgvsp: ENSP00000408446.2:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.257C>T
  hgvsp: ENSP00000434303.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1094C>T
  hgvsp: ENSP00000432340.1:p.Pro365Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.926C>T
  hgvsp: ENSP00000434250.1:p.Pro309Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1205C>T
  hgvsp: ENSP00000433138.1:p.Pro402Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1142C>T
  hgvsp: ENSP00000469724.1:p.Pro381Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.257C>T
  hgvsp: ENSP00000344132.5:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+574C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1205C>T
  hgvsp: ENSP00000470811.1:p.Pro402Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.782C>T
  hgvsp: ENSP00000472457.1:p.Pro261Leu
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro402Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-104896997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104896997
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104896997
    reference: chr 11
allele count: 3
allele frequency: 2.482868209355447e-5
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.255C>T
  hgvsp: ENST00000353247.5:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1140C>T
  hgvsp: ENST00000593315.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1092C>T
  hgvsp: ENST00000527979.1:c.1092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.780C>T
  hgvsp: ENST00000446369.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.255C>T
  hgvsp: ENST00000531166.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1140C>T
  hgvsp: ENST00000393136.4:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1140C>T
  hgvsp: ENST00000525825.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.780C>T
  hgvsp: ENST00000534497.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.924C>T
  hgvsp: ENST00000526568.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+572C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1203C>T
  hgvsp: ENST00000598974.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.255C>T
  hgvsp: ENST00000415981.2:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1203C>T
  hgvsp: ENST00000436863.3:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+572C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1203C>T
  hgvsp: ENST00000533400.1:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.780C>T
  hgvsp: ENST00000594519.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe401Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-104897002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897002
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897002
    reference: chr 11
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+567C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.250C>T
  hgvsp: ENSP00000434303.1:p.Leu84Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1135C>T
  hgvsp: ENSP00000434779.1:p.Leu379Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1087C>T
  hgvsp: ENSP00000432340.1:p.Leu363Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.775C>T
  hgvsp: ENSP00000403260.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.775C>T
  hgvsp: ENSP00000472457.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1198C>T
  hgvsp: ENSP00000410076.3:p.Leu400Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1135C>T
  hgvsp: ENSP00000469724.1:p.Leu379Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.250C>T
  hgvsp: ENSP00000408446.2:p.Leu84Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.775C>T
  hgvsp: ENSP00000436875.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1135C>T
  hgvsp: ENSP00000376844.4:p.Leu379Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.250C>T
  hgvsp: ENSP00000344132.5:p.Leu84Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1198C>T
  hgvsp: ENSP00000470811.1:p.Leu400Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.919C>T
  hgvsp: ENSP00000434250.1:p.Leu307Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+567C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1198C>T
  hgvsp: ENSP00000433138.1:p.Leu400Phe
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu400Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

11-104897021-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897021
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897021
    reference: chr 11
allele count: 2
allele frequency: 1.653767281868095e-5
allele num: 120936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1179T>C
  hgvsp: ENST00000436863.3:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.756T>C
  hgvsp: ENST00000534497.1:c.756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1179T>C
  hgvsp: ENST00000533400.1:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.756T>C
  hgvsp: ENST00000594519.1:c.756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.900T>C
  hgvsp: ENST00000526568.1:c.900T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1116T>C
  hgvsp: ENST00000525825.1:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1068T>C
  hgvsp: ENST00000527979.1:c.1068T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+548T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.231T>C
  hgvsp: ENST00000415981.2:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.231T>C
  hgvsp: ENST00000353247.5:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1116T>C
  hgvsp: ENST00000393136.4:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.756T>C
  hgvsp: ENST00000446369.1:c.756T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.231T>C
  hgvsp: ENST00000531166.1:c.231T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+548T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1116T>C
  hgvsp: ENST00000593315.1:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1179T>C
  hgvsp: ENST00000598974.1:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr393Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-104897024-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897024
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897024
    reference: chr 11
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.753G>T
  hgvsp: ENST00000446369.1:c.753G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1113G>T
  hgvsp: ENST00000593315.1:c.1113G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.228G>T
  hgvsp: ENST00000531166.1:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.228G>T
  hgvsp: ENST00000415981.2:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.753G>T
  hgvsp: ENST00000594519.1:c.753G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1176G>T
  hgvsp: ENST00000436863.3:c.1176G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+545G>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1113G>T
  hgvsp: ENST00000525825.1:c.1113G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.228G>T
  hgvsp: ENST00000353247.5:c.228G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1113G>T
  hgvsp: ENST00000393136.4:c.1113G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1176G>T
  hgvsp: ENST00000533400.1:c.1176G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.897G>T
  hgvsp: ENST00000526568.1:c.897G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1176G>T
  hgvsp: ENST00000598974.1:c.1176G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1065G>T
  hgvsp: ENST00000527979.1:c.1065G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.753G>T
  hgvsp: ENST00000534497.1:c.753G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+545G>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val392Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

11-104897034-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897034
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897034
    reference: chr 11
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1103C>G
  hgvsp: ENSP00000469724.1:p.Thr368Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.743C>G
  hgvsp: ENSP00000403260.1:p.Thr248Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.218C>G
  hgvsp: ENSP00000408446.2:p.Thr73Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1103C>G
  hgvsp: ENSP00000376844.4:p.Thr368Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1055C>G
  hgvsp: ENSP00000432340.1:p.Thr352Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1166C>G
  hgvsp: ENSP00000433138.1:p.Thr389Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.218C>G
  hgvsp: ENSP00000434303.1:p.Thr73Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+535C>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.743C>G
  hgvsp: ENSP00000436875.1:p.Thr248Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1166C>G
  hgvsp: ENSP00000470811.1:p.Thr389Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1103C>G
  hgvsp: ENSP00000434779.1:p.Thr368Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1166C>G
  hgvsp: ENSP00000410076.3:p.Thr389Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.218C>G
  hgvsp: ENSP00000344132.5:p.Thr73Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.887C>G
  hgvsp: ENSP00000434250.1:p.Thr296Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.743C>G
  hgvsp: ENSP00000472457.1:p.Thr248Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+535C>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr389Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-104897041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897041
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897041
    reference: chr 11
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1096C>T
  hgvsp: ENSP00000434779.1:p.Pro366Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.736C>T
  hgvsp: ENSP00000436875.1:p.Pro246Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.211C>T
  hgvsp: ENSP00000434303.1:p.Pro71Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1096C>T
  hgvsp: ENSP00000376844.4:p.Pro366Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1159C>T
  hgvsp: ENSP00000433138.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+528C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1159C>T
  hgvsp: ENSP00000470811.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1048C>T
  hgvsp: ENSP00000432340.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.880C>T
  hgvsp: ENSP00000434250.1:p.Pro294Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.211C>T
  hgvsp: ENSP00000344132.5:p.Pro71Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.211C>T
  hgvsp: ENSP00000408446.2:p.Pro71Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1096C>T
  hgvsp: ENSP00000469724.1:p.Pro366Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1159C>T
  hgvsp: ENSP00000410076.3:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.736C>T
  hgvsp: ENSP00000472457.1:p.Pro246Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.736C>T
  hgvsp: ENSP00000403260.1:p.Pro246Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+528C>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro387Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-104897048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897048
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897048
    reference: chr 11
allele count: 5
allele frequency: 4.13715496127623e-5
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.204G>A
  hgvsp: ENST00000353247.5:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.204G>A
  hgvsp: ENST00000531166.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.729G>A
  hgvsp: ENST00000594519.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.729G>A
  hgvsp: ENST00000534497.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1152G>A
  hgvsp: ENST00000533400.1:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1152G>A
  hgvsp: ENST00000436863.3:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.729G>A
  hgvsp: ENST00000446369.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.204G>A
  hgvsp: ENST00000415981.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1089G>A
  hgvsp: ENST00000525825.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1041G>A
  hgvsp: ENST00000527979.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1152G>A
  hgvsp: ENST00000598974.1:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1089G>A
  hgvsp: ENST00000393136.4:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+521G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1089G>A
  hgvsp: ENST00000593315.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+521G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.873G>A
  hgvsp: ENST00000526568.1:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala384Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-104897049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897049
    reference: chr 11
allele count: 38
allele frequency: 3.144081679932485e-4
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.203C>T
  hgvsp: ENSP00000344132.5:p.Ala68Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.872C>T
  hgvsp: ENSP00000434250.1:p.Ala291Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+520C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.203C>T
  hgvsp: ENSP00000434303.1:p.Ala68Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1151C>T
  hgvsp: ENSP00000410076.3:p.Ala384Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1151C>T
  hgvsp: ENSP00000433138.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.728C>T
  hgvsp: ENSP00000436875.1:p.Ala243Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1040C>T
  hgvsp: ENSP00000432340.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+520C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1088C>T
  hgvsp: ENSP00000376844.4:p.Ala363Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1088C>T
  hgvsp: ENSP00000469724.1:p.Ala363Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.728C>T
  hgvsp: ENSP00000472457.1:p.Ala243Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.728C>T
  hgvsp: ENSP00000403260.1:p.Ala243Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1088C>T
  hgvsp: ENSP00000434779.1:p.Ala363Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.203C>T
  hgvsp: ENSP00000408446.2:p.Ala68Val
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1151C>T
  hgvsp: ENSP00000470811.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18710
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala384Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

11-104897051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897051
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897051
    reference: chr 11
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1086A>G
  hgvsp: ENST00000393136.4:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.201A>G
  hgvsp: ENST00000353247.5:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.726A>G
  hgvsp: ENST00000594519.1:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+518A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.201A>G
  hgvsp: ENST00000531166.1:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+518A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1149A>G
  hgvsp: ENST00000598974.1:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1086A>G
  hgvsp: ENST00000593315.1:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.726A>G
  hgvsp: ENST00000446369.1:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1149A>G
  hgvsp: ENST00000533400.1:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.201A>G
  hgvsp: ENST00000415981.2:c.201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.726A>G
  hgvsp: ENST00000534497.1:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1038A>G
  hgvsp: ENST00000527979.1:c.1038A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.870A>G
  hgvsp: ENST00000526568.1:c.870A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1149A>G
  hgvsp: ENST00000436863.3:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1086A>G
  hgvsp: ENST00000525825.1:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg383Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/11-104897056-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897056
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897056
    reference: chr 11
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.196G>T
  hgvsp: ENSP00000434303.1:p.Gly66Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.721G>T
  hgvsp: ENSP00000436875.1:p.Gly241Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1081G>T
  hgvsp: ENSP00000376844.4:p.Gly361Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.196G>T
  hgvsp: ENSP00000408446.2:p.Gly66Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1144G>T
  hgvsp: ENSP00000433138.1:p.Gly382Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.196G>T
  hgvsp: ENSP00000344132.5:p.Gly66Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1144G>T
  hgvsp: ENSP00000410076.3:p.Gly382Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1081G>T
  hgvsp: ENSP00000434779.1:p.Gly361Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1144G>T
  hgvsp: ENSP00000470811.1:p.Gly382Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.865G>T
  hgvsp: ENSP00000434250.1:p.Gly289Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1081G>T
  hgvsp: ENSP00000469724.1:p.Gly361Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.721G>T
  hgvsp: ENSP00000403260.1:p.Gly241Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.721G>T
  hgvsp: ENSP00000472457.1:p.Gly241Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1033G>T
  hgvsp: ENSP00000432340.1:p.Gly345Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+513G>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+513G>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly382Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

11-104897059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897059
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897059
    reference: chr 11
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1030G>C
  hgvsp: ENSP00000432340.1:p.Asp344His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1141G>C
  hgvsp: ENSP00000433138.1:p.Asp381His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.718G>C
  hgvsp: ENSP00000403260.1:p.Asp240His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1078G>C
  hgvsp: ENSP00000376844.4:p.Asp360His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+510G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+510G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1078G>C
  hgvsp: ENSP00000469724.1:p.Asp360His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.193G>C
  hgvsp: ENSP00000344132.5:p.Asp65His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1141G>C
  hgvsp: ENSP00000470811.1:p.Asp381His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1078G>C
  hgvsp: ENSP00000434779.1:p.Asp360His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1141G>C
  hgvsp: ENSP00000410076.3:p.Asp381His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.862G>C
  hgvsp: ENSP00000434250.1:p.Asp288His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.193G>C
  hgvsp: ENSP00000408446.2:p.Asp65His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.718G>C
  hgvsp: ENSP00000436875.1:p.Asp240His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.193G>C
  hgvsp: ENSP00000434303.1:p.Asp65His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.718G>C
  hgvsp: ENSP00000472457.1:p.Asp240His
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp381His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-104897066-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897066
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897066
    reference: chr 11
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.711G>C
  hgvsp: ENSP00000472457.1:p.Glu237Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.186G>C
  hgvsp: ENSP00000344132.5:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.186G>C
  hgvsp: ENSP00000408446.2:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1134G>C
  hgvsp: ENSP00000433138.1:p.Glu378Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.711G>C
  hgvsp: ENSP00000403260.1:p.Glu237Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1134G>C
  hgvsp: ENSP00000470811.1:p.Glu378Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.186G>C
  hgvsp: ENSP00000434303.1:p.Glu62Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1071G>C
  hgvsp: ENSP00000376844.4:p.Glu357Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+503G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1071G>C
  hgvsp: ENSP00000469724.1:p.Glu357Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.855G>C
  hgvsp: ENSP00000434250.1:p.Glu285Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1134G>C
  hgvsp: ENSP00000410076.3:p.Glu378Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1023G>C
  hgvsp: ENSP00000432340.1:p.Glu341Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1071G>C
  hgvsp: ENSP00000434779.1:p.Glu357Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+503G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.711G>C
  hgvsp: ENSP00000436875.1:p.Glu237Asp
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu378Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-104897070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897070
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897070
    reference: chr 11
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1067T>C
  hgvsp: ENSP00000376844.4:p.Phe356Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+499T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.182T>C
  hgvsp: ENSP00000408446.2:p.Phe61Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1130T>C
  hgvsp: ENSP00000433138.1:p.Phe377Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.182T>C
  hgvsp: ENSP00000344132.5:p.Phe61Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1130T>C
  hgvsp: ENSP00000470811.1:p.Phe377Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.707T>C
  hgvsp: ENSP00000403260.1:p.Phe236Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1130T>C
  hgvsp: ENSP00000410076.3:p.Phe377Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1067T>C
  hgvsp: ENSP00000434779.1:p.Phe356Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.182T>C
  hgvsp: ENSP00000434303.1:p.Phe61Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+499T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1067T>C
  hgvsp: ENSP00000469724.1:p.Phe356Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1019T>C
  hgvsp: ENSP00000432340.1:p.Phe340Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.707T>C
  hgvsp: ENSP00000472457.1:p.Phe236Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.707T>C
  hgvsp: ENSP00000436875.1:p.Phe236Ser
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.851T>C
  hgvsp: ENSP00000434250.1:p.Phe284Ser
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe377Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-104897080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897080
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897080
    reference: chr 11
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1057C>T
  hgvsp: ENSP00000434779.1:p.Arg353Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1120C>T
  hgvsp: ENSP00000433138.1:p.Arg374Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1120C>T
  hgvsp: ENSP00000470811.1:p.Arg374Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.172C>T
  hgvsp: ENSP00000434303.1:p.Arg58Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.841C>T
  hgvsp: ENSP00000434250.1:p.Arg281Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1120C>T
  hgvsp: ENSP00000410076.3:p.Arg374Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.697C>T
  hgvsp: ENSP00000436875.1:p.Arg233Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.172C>T
  hgvsp: ENSP00000344132.5:p.Arg58Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.172C>T
  hgvsp: ENSP00000408446.2:p.Arg58Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1057C>T
  hgvsp: ENSP00000469724.1:p.Arg353Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1057C>T
  hgvsp: ENSP00000376844.4:p.Arg353Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.697C>T
  hgvsp: ENSP00000403260.1:p.Arg233Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1009C>T
  hgvsp: ENSP00000432340.1:p.Arg337Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+489C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.697C>T
  hgvsp: ENSP00000472457.1:p.Arg233Ter
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+489C>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg374Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-104897090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897090
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897090
    reference: chr 11
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+479C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+479C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-7C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-7C>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19305
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1117-7C>T
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

11-104897105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897105
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897105
    reference: chr 11
allele count: 1
allele frequency: 8.428150021070375e-6
allele num: 118650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+464C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-22C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+464C>T
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-104897108-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897108
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897107
    reference: chr 11
allele count: 1
allele frequency: 8.465536799688468e-6
allele num: 118126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+460delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+460delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-26delG
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-26delG
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: GC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-104897111-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897111
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897112
    reference: chr 11
allele count: 65
allele frequency: 5.904260150785721e-4
allele num: 110090
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+457dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-29dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+457dupA
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-104897111-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897111
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897110
    reference: chr 11
allele count: 65
allele frequency: 5.904260150785721e-4
allele num: 110090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+457delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+457delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-29delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-29delA
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: CT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

11-104897112-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897112
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897112
    reference: chr 11
allele count: 455
allele frequency: 4.113775270333803e-3
allele num: 110604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+457A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-29A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+457A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 2.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 3.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
num of homozygotes: 4
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-104897118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897118
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897118
    reference: chr 11
allele count: 13
allele frequency: 1.125209894922707e-4
allele num: 115534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+451A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+451A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-35A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-35A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

11-104897119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897119
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897119
    reference: chr 11
allele count: 1
allele frequency: 8.667163584045485e-6
allele num: 115378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+450A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+450A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-36A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-36A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-104897119-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897119
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897119
    reference: chr 11
allele count: 1
allele frequency: 8.667163584045485e-6
allele num: 115378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-36A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+450A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+450A>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-104897122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897122
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897122
    reference: chr 11
allele count: 1
allele frequency: 8.741411563139215e-6
allele num: 114398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+447A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-39A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+447A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-39A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

11-104897125-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897125
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897126
    reference: chr 11
allele count: 2132
allele frequency: 2.498593662103881e-2
allele num: 85328
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+443dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+443dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-43dupA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-43dupA
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 2.25e1
  variant carriers: 623
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 1.25e1
  variant carriers: 229
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

11-104897125-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897125
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897124
    reference: chr 11
allele count: 234
allele frequency: 2.742358897431089e-3
allele num: 85328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+443delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-43delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+443delA
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-43delA
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13226
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 1.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: GT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

11-104897130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897130
    reference: chr 11
allele count: 2
allele frequency: 1.771416424573089e-5
allele num: 112904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1054-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1117-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1117-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.694-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.694-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1117-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.169-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+439A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.169-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.169-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1006-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1054-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.694-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1054-47A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+439A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.838-47A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10501
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

11-104897130-TTTTTTCAAGAATTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897130
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897115
    reference: chr 11
allele count: 96
allele frequency: 8.502798837950826e-4
allele num: 112904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: TTTTTTCAAGAATTTC
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

11-104897511-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897511
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897511
    reference: chr 11
allele count: 1
allele frequency: 8.438960995122281e-6
allele num: 118498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*193A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*662A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+58A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+58A>C
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21504
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

11-104897514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897514
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897514
    reference: chr 11
allele count: 5
allele frequency: 4.223971885243132e-5
allele num: 118372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*659G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+55G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+55G>A
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

11-104897528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897528
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897528
    reference: chr 11
allele count: 1
allele frequency: 8.406045628015669e-6
allele num: 118962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*645A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*176A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+41A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+41A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-104897536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897536
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897536
    reference: chr 11
allele count: 1522
allele frequency: 1.275647043046802e-2
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*637C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+33C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+33C>T
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 23741
  bin: 2.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
num of homozygotes: 22
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

11-104897548-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897548
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897548
    reference: chr 11
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*156A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*625A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+21A>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+21A>T
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-104897557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897557
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897557
    reference: chr 11
allele count: 4
allele frequency: 3.329005626019508e-5
allele num: 120156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*616G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+12G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+12G>A
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-104897559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897559
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897559
    reference: chr 11
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*145T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*614T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+10T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+10T>C
  variant of: http://identifiers.org/hgnc/1499
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-104897562-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897562
    reference: chr 11
allele count: 3
allele frequency: 2.49500998003992e-5
allele num: 120240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*142T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*611T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+7T>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+7T>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1116+7T>G
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

11-104897562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897562
    reference: chr 11
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*142T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*611T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837+7T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116+7T>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1116+7T>C
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: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-104897569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897569
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897569
    reference: chr 11
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.837G>A
  hgvsp: ENST00000526568.1:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.663G>A
  hgvsp: ENST00000532439.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.168G>A
  hgvsp: ENST00000353247.5:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.168G>A
  hgvsp: ENST00000531166.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1005G>A
  hgvsp: ENST00000527979.1:c.1005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1053G>A
  hgvsp: ENST00000593315.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.168G>A
  hgvsp: ENST00000415981.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.331G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.693G>A
  hgvsp: ENST00000446369.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.693G>A
  hgvsp: ENST00000594519.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1116G>A
  hgvsp: ENST00000533400.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1053G>A
  hgvsp: ENST00000393136.4:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1053G>A
  hgvsp: ENST00000525825.1:c.1053G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1116G>A
  hgvsp: ENST00000436863.3:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.693G>A
  hgvsp: ENST00000534497.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*604G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1116G>A
  hgvsp: ENST00000598974.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1116G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/11-104897573-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897573
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897573
    reference: chr 11
allele count: 2
allele frequency: 1.661267547138467e-5
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.689G>T
  hgvsp: ENSP00000436875.1:p.Arg230Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*131G>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1049G>T
  hgvsp: ENSP00000469724.1:p.Arg350Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.164G>T
  hgvsp: ENSP00000434303.1:p.Arg55Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.689G>T
  hgvsp: ENSP00000472457.1:p.Arg230Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*600G>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1112G>T
  hgvsp: ENSP00000410076.3:p.Arg371Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1112G>T
  hgvsp: ENSP00000433138.1:p.Arg371Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.164G>T
  hgvsp: ENSP00000344132.5:p.Arg55Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.659G>T
  hgvsp: ENSP00000435536.1:p.Arg220Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.327G>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1001G>T
  hgvsp: ENSP00000432340.1:p.Arg334Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.164G>T
  hgvsp: ENSP00000408446.2:p.Arg55Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.833G>T
  hgvsp: ENSP00000434250.1:p.Arg278Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1049G>T
  hgvsp: ENSP00000376844.4:p.Arg350Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.689G>T
  hgvsp: ENSP00000403260.1:p.Arg230Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1112G>T
  hgvsp: ENSP00000470811.1:p.Arg371Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1049G>T
  hgvsp: ENSP00000434779.1:p.Arg350Leu
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg371Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

11-104897573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897573
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897573
    reference: chr 11
allele count: 4
allele frequency: 3.322535094276933e-5
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1049G>A
  hgvsp: ENSP00000469724.1:p.Arg350His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.164G>A
  hgvsp: ENSP00000344132.5:p.Arg55His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.689G>A
  hgvsp: ENSP00000403260.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.164G>A
  hgvsp: ENSP00000408446.2:p.Arg55His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1001G>A
  hgvsp: ENSP00000432340.1:p.Arg334His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.689G>A
  hgvsp: ENSP00000472457.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1112G>A
  hgvsp: ENSP00000410076.3:p.Arg371His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1112G>A
  hgvsp: ENSP00000470811.1:p.Arg371His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1112G>A
  hgvsp: ENSP00000433138.1:p.Arg371His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1049G>A
  hgvsp: ENSP00000376844.4:p.Arg350His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1049G>A
  hgvsp: ENSP00000434779.1:p.Arg350His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.164G>A
  hgvsp: ENSP00000434303.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.833G>A
  hgvsp: ENSP00000434250.1:p.Arg278His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.689G>A
  hgvsp: ENSP00000436875.1:p.Arg230His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*131G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.659G>A
  hgvsp: ENSP00000435536.1:p.Arg220His
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*600G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.327G>A
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg371His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-104897574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897574
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897574
    reference: chr 11
allele count: 10
allele frequency: 8.305233958440609e-5
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.163C>T
  hgvsp: ENSP00000344132.5:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1048C>T
  hgvsp: ENSP00000376844.4:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.658C>T
  hgvsp: ENSP00000435536.1:p.Arg220Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1111C>T
  hgvsp: ENSP00000410076.3:p.Arg371Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.163C>T
  hgvsp: ENSP00000434303.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1111C>T
  hgvsp: ENSP00000433138.1:p.Arg371Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.1000C>T
  hgvsp: ENSP00000432340.1:p.Arg334Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*130C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.688C>T
  hgvsp: ENSP00000472457.1:p.Arg230Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1111C>T
  hgvsp: ENSP00000470811.1:p.Arg371Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1048C>T
  hgvsp: ENSP00000434779.1:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*599C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1048C>T
  hgvsp: ENSP00000469724.1:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.832C>T
  hgvsp: ENSP00000434250.1:p.Arg278Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.163C>T
  hgvsp: ENSP00000408446.2:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.326C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.688C>T
  hgvsp: ENSP00000436875.1:p.Arg230Cys
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.688C>T
  hgvsp: ENSP00000403260.1:p.Arg230Cys
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg371Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

11-104897575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897575
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897575
    reference: chr 11
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.831C>T
  hgvsp: ENST00000526568.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*598C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.687C>T
  hgvsp: ENST00000446369.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.657C>T
  hgvsp: ENST00000532439.1:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.999C>T
  hgvsp: ENST00000527979.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.162C>T
  hgvsp: ENST00000415981.2:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.162C>T
  hgvsp: ENST00000531166.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1110C>T
  hgvsp: ENST00000533400.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*129C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.687C>T
  hgvsp: ENST00000534497.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.325C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.687C>T
  hgvsp: ENST00000594519.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1047C>T
  hgvsp: ENST00000593315.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1110C>T
  hgvsp: ENST00000436863.3:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.162C>T
  hgvsp: ENST00000353247.5:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1110C>T
  hgvsp: ENST00000598974.1:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1047C>T
  hgvsp: ENST00000525825.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1047C>T
  hgvsp: ENST00000393136.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe370Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-104897590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897590
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897590
    reference: chr 11
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.147T>C
  hgvsp: ENST00000353247.5:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1032T>C
  hgvsp: ENST00000393136.4:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*583T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1032T>C
  hgvsp: ENST00000525825.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1095T>C
  hgvsp: ENST00000436863.3:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.642T>C
  hgvsp: ENST00000532439.1:c.642T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1095T>C
  hgvsp: ENST00000533400.1:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.672T>C
  hgvsp: ENST00000446369.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.984T>C
  hgvsp: ENST00000527979.1:c.984T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1095T>C
  hgvsp: ENST00000598974.1:c.1095T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.672T>C
  hgvsp: ENST00000594519.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.672T>C
  hgvsp: ENST00000534497.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.310T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1032T>C
  hgvsp: ENST00000593315.1:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.147T>C
  hgvsp: ENST00000415981.2:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.147T>C
  hgvsp: ENST00000531166.1:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.816T>C
  hgvsp: ENST00000526568.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp365Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-104897597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897597
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897597
    reference: chr 11
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.665C>T
  hgvsp: ENSP00000472457.1:p.Ser222Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.303C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1088C>T
  hgvsp: ENSP00000433138.1:p.Ser363Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1025C>T
  hgvsp: ENSP00000469724.1:p.Ser342Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.140C>T
  hgvsp: ENSP00000344132.5:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.140C>T
  hgvsp: ENSP00000434303.1:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*576C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1088C>T
  hgvsp: ENSP00000470811.1:p.Ser363Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.635C>T
  hgvsp: ENSP00000435536.1:p.Ser212Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.977C>T
  hgvsp: ENSP00000432340.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.140C>T
  hgvsp: ENSP00000408446.2:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1025C>T
  hgvsp: ENSP00000376844.4:p.Ser342Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1088C>T
  hgvsp: ENSP00000410076.3:p.Ser363Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1025C>T
  hgvsp: ENSP00000434779.1:p.Ser342Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.809C>T
  hgvsp: ENSP00000434250.1:p.Ser270Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.665C>T
  hgvsp: ENSP00000436875.1:p.Ser222Phe
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.665C>T
  hgvsp: ENSP00000403260.1:p.Ser222Phe
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser363Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-104897616-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897616
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897616
    reference: chr 11
allele count: 76
allele frequency: 6.299943632083292e-4
allele num: 120636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.1006A>C
  hgvsp: ENSP00000376844.4:p.Met336Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.646A>C
  hgvsp: ENSP00000403260.1:p.Met216Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.1006A>C
  hgvsp: ENSP00000434779.1:p.Met336Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.616A>C
  hgvsp: ENSP00000435536.1:p.Met206Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.958A>C
  hgvsp: ENSP00000432340.1:p.Met320Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.121A>C
  hgvsp: ENSP00000344132.5:p.Met41Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1069A>C
  hgvsp: ENSP00000410076.3:p.Met357Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*88A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.790A>C
  hgvsp: ENSP00000434250.1:p.Met264Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.1006A>C
  hgvsp: ENSP00000469724.1:p.Met336Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1069A>C
  hgvsp: ENSP00000433138.1:p.Met357Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1069A>C
  hgvsp: ENSP00000470811.1:p.Met357Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.646A>C
  hgvsp: ENSP00000472457.1:p.Met216Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.284A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.121A>C
  hgvsp: ENSP00000434303.1:p.Met41Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.646A>C
  hgvsp: ENSP00000436875.1:p.Met216Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*557A>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.121A>C
  hgvsp: ENSP00000408446.2:p.Met41Leu
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met357Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

11-104897633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897633
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897633
    reference: chr 11
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.989G>A
  hgvsp: ENSP00000376844.4:p.Gly330Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.629G>A
  hgvsp: ENSP00000403260.1:p.Gly210Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.267G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.629G>A
  hgvsp: ENSP00000472457.1:p.Gly210Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1052G>A
  hgvsp: ENSP00000410076.3:p.Gly351Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.773G>A
  hgvsp: ENSP00000434250.1:p.Gly258Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.941G>A
  hgvsp: ENSP00000432340.1:p.Gly314Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.104G>A
  hgvsp: ENSP00000408446.2:p.Gly35Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.989G>A
  hgvsp: ENSP00000434779.1:p.Gly330Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*540G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.104G>A
  hgvsp: ENSP00000344132.5:p.Gly35Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.599G>A
  hgvsp: ENSP00000435536.1:p.Gly200Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.629G>A
  hgvsp: ENSP00000436875.1:p.Gly210Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1052G>A
  hgvsp: ENSP00000470811.1:p.Gly351Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.104G>A
  hgvsp: ENSP00000434303.1:p.Gly35Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.989G>A
  hgvsp: ENSP00000469724.1:p.Gly330Glu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1052G>A
  hgvsp: ENSP00000433138.1:p.Gly351Glu
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly351Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

11-104897643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897643
    reference: chr 11
allele count: 3
allele frequency: 2.488800398208064e-5
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*61G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.94G>C
  hgvsp: ENSP00000408446.2:p.Val32Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.619G>C
  hgvsp: ENSP00000436875.1:p.Val207Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.589G>C
  hgvsp: ENSP00000435536.1:p.Val197Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.979G>C
  hgvsp: ENSP00000376844.4:p.Val327Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.931G>C
  hgvsp: ENSP00000432340.1:p.Val311Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1042G>C
  hgvsp: ENSP00000410076.3:p.Val348Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.94G>C
  hgvsp: ENSP00000344132.5:p.Val32Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.979G>C
  hgvsp: ENSP00000469724.1:p.Val327Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1042G>C
  hgvsp: ENSP00000433138.1:p.Val348Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.619G>C
  hgvsp: ENSP00000403260.1:p.Val207Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.979G>C
  hgvsp: ENSP00000434779.1:p.Val327Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*530G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.619G>C
  hgvsp: ENSP00000472457.1:p.Val207Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1042G>C
  hgvsp: ENSP00000470811.1:p.Val348Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.94G>C
  hgvsp: ENSP00000434303.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.257G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.763G>C
  hgvsp: ENSP00000434250.1:p.Val255Leu
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val348Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

11-104897643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897643
    reference: chr 11
allele count: 3
allele frequency: 2.488800398208064e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.619G>A
  hgvsp: ENSP00000403260.1:p.Val207Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.931G>A
  hgvsp: ENSP00000432340.1:p.Val311Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.94G>A
  hgvsp: ENSP00000344132.5:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.94G>A
  hgvsp: ENSP00000434303.1:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.257G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.619G>A
  hgvsp: ENSP00000472457.1:p.Val207Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.979G>A
  hgvsp: ENSP00000376844.4:p.Val327Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.763G>A
  hgvsp: ENSP00000434250.1:p.Val255Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*530G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.619G>A
  hgvsp: ENSP00000436875.1:p.Val207Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.94G>A
  hgvsp: ENSP00000408446.2:p.Val32Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.979G>A
  hgvsp: ENSP00000434779.1:p.Val327Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1042G>A
  hgvsp: ENSP00000410076.3:p.Val348Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.979G>A
  hgvsp: ENSP00000469724.1:p.Val327Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*61G>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1042G>A
  hgvsp: ENSP00000470811.1:p.Val348Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.589G>A
  hgvsp: ENSP00000435536.1:p.Val197Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1042G>A
  hgvsp: ENSP00000433138.1:p.Val348Ile
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val348Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

11-104897650-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897650
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897650
    reference: chr 11
allele count: 2
allele frequency: 1.6604400166044e-5
allele num: 120450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.87G>C
  hgvsp: ENSP00000408446.2:p.Met29Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.612G>C
  hgvsp: ENSP00000403260.1:p.Met204Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.582G>C
  hgvsp: ENSP00000435536.1:p.Met194Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*523G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.612G>C
  hgvsp: ENSP00000472457.1:p.Met204Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1035G>C
  hgvsp: ENSP00000433138.1:p.Met345Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.972G>C
  hgvsp: ENSP00000469724.1:p.Met324Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.972G>C
  hgvsp: ENSP00000434779.1:p.Met324Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.924G>C
  hgvsp: ENSP00000432340.1:p.Met308Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.87G>C
  hgvsp: ENSP00000434303.1:p.Met29Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.87G>C
  hgvsp: ENSP00000344132.5:p.Met29Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.756G>C
  hgvsp: ENSP00000434250.1:p.Met252Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.972G>C
  hgvsp: ENSP00000376844.4:p.Met324Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.250G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*54G>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1035G>C
  hgvsp: ENSP00000410076.3:p.Met345Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.612G>C
  hgvsp: ENSP00000436875.1:p.Met204Ile
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1035G>C
  hgvsp: ENSP00000470811.1:p.Met345Ile
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met345Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-104897651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897651
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897651
    reference: chr 11
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.86T>C
  hgvsp: ENSP00000408446.2:p.Met29Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.611T>C
  hgvsp: ENSP00000436875.1:p.Met204Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.923T>C
  hgvsp: ENSP00000432340.1:p.Met308Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.971T>C
  hgvsp: ENSP00000469724.1:p.Met324Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.611T>C
  hgvsp: ENSP00000472457.1:p.Met204Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.86T>C
  hgvsp: ENSP00000434303.1:p.Met29Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.971T>C
  hgvsp: ENSP00000434779.1:p.Met324Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.86T>C
  hgvsp: ENSP00000344132.5:p.Met29Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1034T>C
  hgvsp: ENSP00000410076.3:p.Met345Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1034T>C
  hgvsp: ENSP00000470811.1:p.Met345Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.971T>C
  hgvsp: ENSP00000376844.4:p.Met324Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.581T>C
  hgvsp: ENSP00000435536.1:p.Met194Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.755T>C
  hgvsp: ENSP00000434250.1:p.Met252Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.611T>C
  hgvsp: ENSP00000403260.1:p.Met204Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.249T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*53T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*522T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1034T>C
  hgvsp: ENSP00000433138.1:p.Met345Thr
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met345Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

11-104897658-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897658
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897658
    reference: chr 11
allele count: 10
allele frequency: 8.309788931361143e-5
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*46C>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*515C>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.964C>A
  hgvsp: ENSP00000376844.4:p.Pro322Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.604C>A
  hgvsp: ENSP00000436875.1:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.604C>A
  hgvsp: ENSP00000403260.1:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.604C>A
  hgvsp: ENSP00000472457.1:p.Pro202Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.574C>A
  hgvsp: ENSP00000435536.1:p.Pro192Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.916C>A
  hgvsp: ENSP00000432340.1:p.Pro306Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.79C>A
  hgvsp: ENSP00000344132.5:p.Pro27Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1027C>A
  hgvsp: ENSP00000433138.1:p.Pro343Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.748C>A
  hgvsp: ENSP00000434250.1:p.Pro250Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.79C>A
  hgvsp: ENSP00000408446.2:p.Pro27Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1027C>A
  hgvsp: ENSP00000410076.3:p.Pro343Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.964C>A
  hgvsp: ENSP00000434779.1:p.Pro322Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1027C>A
  hgvsp: ENSP00000470811.1:p.Pro343Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.242C>A
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.964C>A
  hgvsp: ENSP00000469724.1:p.Pro322Thr
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.79C>A
  hgvsp: ENSP00000434303.1:p.Pro27Thr
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Pro343Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-104897676-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897676
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897676
    reference: chr 11
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.898A>G
  hgvsp: ENSP00000432340.1:p.Asn300Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.946A>G
  hgvsp: ENSP00000434779.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.946A>G
  hgvsp: ENSP00000469724.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.730A>G
  hgvsp: ENSP00000434250.1:p.Asn244Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1009A>G
  hgvsp: ENSP00000410076.3:p.Asn337Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.556A>G
  hgvsp: ENSP00000435536.1:p.Asn186Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1009A>G
  hgvsp: ENSP00000433138.1:p.Asn337Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.586A>G
  hgvsp: ENSP00000436875.1:p.Asn196Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.61A>G
  hgvsp: ENSP00000344132.5:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.586A>G
  hgvsp: ENSP00000403260.1:p.Asn196Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.946A>G
  hgvsp: ENSP00000376844.4:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.586A>G
  hgvsp: ENSP00000472457.1:p.Asn196Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1009A>G
  hgvsp: ENSP00000470811.1:p.Asn337Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*497A>G
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.61A>G
  hgvsp: ENSP00000434303.1:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.61A>G
  hgvsp: ENSP00000408446.2:p.Asn21Asp
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.224A>G
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn337Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-104897681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 104897681
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 104897681
    reference: chr 11
allele count: 6
allele frequency: 5.017141901496781e-5
allele num: 119590
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000433138
  ensembl transcript: ENST00000533400
  gene symbol: CASP1
  hgvsc: ENST00000533400.1:c.1007-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000431947
  ensembl transcript: ENST00000529871
  gene symbol: CASP1
  hgvsc: ENST00000529871.1:c.*495-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000403260
  ensembl transcript: ENST00000446369
  gene symbol: CASP1
  hgvsc: ENST00000446369.1:c.584-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000469724
  ensembl transcript: ENST00000593315
  gene symbol: CASP1
  hgvsc: ENST00000593315.1:c.944-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137752
  ensembl transcript: ENST00000527625
  gene symbol: CASP1
  hgvsc: ENST00000527625.1:n.219T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000432340
  ensembl transcript: ENST00000527979
  gene symbol: CASP1
  hgvsc: ENST00000527979.1:c.896-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000436875
  ensembl transcript: ENST00000534497
  gene symbol: CASP1
  hgvsc: ENST00000534497.1:c.584-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434303
  ensembl transcript: ENST00000531166
  gene symbol: CASP1
  hgvsc: ENST00000531166.1:c.59-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000470811
  ensembl transcript: ENST00000598974
  gene symbol: CASP1
  hgvsc: ENST00000598974.1:c.1007-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434779
  ensembl transcript: ENST00000525825
  gene symbol: CASP1
  hgvsc: ENST00000525825.1:c.944-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000344132
  ensembl transcript: ENST00000353247
  gene symbol: CASP1
  hgvsc: ENST00000353247.5:c.59-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434250
  ensembl transcript: ENST00000526568
  gene symbol: CASP1
  hgvsc: ENST00000526568.1:c.728-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000472457
  ensembl transcript: ENST00000594519
  gene symbol: CASP1
  hgvsc: ENST00000594519.1:c.584-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000434259
  ensembl transcript: ENST00000528974
  gene symbol: CASP1
  hgvsc: ENST00000528974.1:c.*23T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000376844
  ensembl transcript: ENST00000393136
  gene symbol: CASP1
  hgvsc: ENST00000393136.4:c.944-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000408446
  ensembl transcript: ENST00000415981
  gene symbol: CASP1
  hgvsc: ENST00000415981.2:c.59-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000410076
  ensembl transcript: ENST00000436863
  gene symbol: CASP1
  hgvsc: ENST00000436863.3:c.1007-3T>C
  variant of: http://identifiers.org/hgnc/1499
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137752
  ensembl protein: ENSP00000435536
  ensembl transcript: ENST00000532439
  gene symbol: CASP1
  hgvsc: ENST00000532439.1:c.554-3T>C
  variant of: http://identifiers.org/hgnc/1499
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1007-3T>C
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 4121
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19355
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12587
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 9.75e1
variant carriers: 14

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

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.355800890954871e-3
allele num: 10326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.773722e6

GenotypeDepth
all individuals: 467
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1781
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 854
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 384
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.773722e6

FS
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

GenotypeDepth
all individuals: 282
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4123
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18499
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12588
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

FS
type: SiteQuality
SIO_000300: 3.456e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.773982e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e0

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.21e-1

GenotypeDepth
all individuals: 19474
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1778
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 94
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 36114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9691
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.039012017633915e-5
allele num: 66236
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: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.777304e6

FS
type: SiteQuality
SIO_000300: 2.828e0

QD
type: SiteQuality
SIO_000300: 1.262e1

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19532
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1776
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 9698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36209
bin: 6.25e1
variant carriers: 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: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 4.835589941972921e-4
allele num: 10340
num of homozygotes: 0

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

VQSLOD
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MQ
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SIO_000300: 5.931e1

BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 9.900000000000001e-3

MQRankSum
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QD
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SIO_000300: 1.584e1

ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.709537572254335e-4
allele num: 66432
num of homozygotes: 0

Latino
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allele num: 11372
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

Other
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num of homozygotes: 0

Latino
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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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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66452
num of homozygotes: 0

African
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South Asian
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FS
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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SIO_000300: 5.938e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele num: 8646
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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FS
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InbreedingCoeff
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VQSLOD
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DP
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Other
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQ
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FS
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DP
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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African
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East Asian
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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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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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeDepth
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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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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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GenotypeDepth
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European (Non-Finnish)
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African
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Other
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Latino
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European (Finnish)
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South Asian
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MQ
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DP
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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East Asian
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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African
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East Asian
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MQ
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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Latino
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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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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MQ
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MQRankSum
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FS
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European (Non-Finnish)
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African
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MQ
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VQSLOD
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VQSLOD
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5949
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 3175
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1422
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 18224
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 4.75e1
variant carriers: 2

South Asian
type: Population
allele count: 11
allele frequency: 7.092198581560284e-4
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.753655294638901e-4
allele num: 9028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.291705252017463e-4
allele num: 60472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.387735547748323e-4
allele num: 6262
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.066951186983195e-3
allele num: 7498
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.863141820958198e-4
allele num: 10478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 1.898e0

DP
type: SiteQuality
SIO_000300: 1.704456e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

GenotypeDepth
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 382
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5114
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2720
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1358
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 170
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1422
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2006
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 18224
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1666
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5949
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1287
bin: 7.5e0
variant carriers: 15

GenotypeQuality
all individuals: 2811
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1462
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 815
bin: 1.75e1
variant carriers: 10

GenotypeQuality
all individuals: 649
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 733
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2524
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6301
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3444
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1389
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3175
bin: 9.75e1
variant carriers: 21

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.614631565021828e-4
allele num: 60472
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.667377967457989e-4
allele num: 7498
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.160541586073501e-3
allele num: 15510
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.77190303493033e-4
allele num: 10478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 1.898e0

QD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

DP
type: SiteQuality
SIO_000300: 1.704456e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeDepth
all individuals: 514
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1251
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 807
bin: 5.25e1
variant carriers: 13

GenotypeDepth
all individuals: 81
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 369
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 91
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 196
bin: 6.75e1
variant carriers: 6

GenotypeDepth
all individuals: 86
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 6762
bin: 1.75e1
variant carriers: 37

GenotypeDepth
all individuals: 531
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2279
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1242
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1033
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 674
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1384
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 557
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6373
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2502
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 9.75e1
variant carriers: 427

GenotypeQuality
all individuals: 1333
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 696
bin: 9.25e1
variant carriers: 2

South Asian
type: Population
allele count: 13
allele frequency: 8.416418490224006e-4
allele num: 15446
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 405
allele frequency: 6.666447195154069e-3
allele num: 60752
num of homozygotes: 3

African
type: Population
allele count: 8
allele frequency: 8.82223202470225e-4
allele num: 9068
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.320256506978499e-3
allele num: 10604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.23356732610083e-3
allele num: 6268
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.691945e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeDepth
all individuals: 91
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13770
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 5801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.762572236567073e-4
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573118550213944e-5
allele num: 63568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 1.415e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.55369e6

GenotypeDepth
all individuals: 1586
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3422
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
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variant carriers: 0

GenotypeDepth
all individuals: 77
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variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13852
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 280
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
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variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.094216078574027e-5
allele num: 10996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.552635e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.258e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.347e-1

GenotypeDepth
all individuals: 10811
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9579
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9355
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1716
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3670
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.070893124866138e-4
allele num: 9338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.347e-1

DP
type: SiteQuality
SIO_000300: 1.552635e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeDepth
all individuals: 1553
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9999
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8552
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
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variant carriers: 0

GenotypeDepth
all individuals: 3234
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6334
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 4.75e1
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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590583744234134e-5
allele num: 62870
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
allele num: 9242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

FS
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.454e1

DP
type: SiteQuality
SIO_000300: 1.52452e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 216
bin: 6.75e1
variant carriers: 10

GenotypeDepth
all individuals: 7649
bin: 3.25e1
variant carriers: 372

GenotypeDepth
all individuals: 10973
bin: 2.75e1
variant carriers: 498

GenotypeDepth
all individuals: 13226
bin: 1.75e1
variant carriers: 558

GenotypeDepth
all individuals: 167
bin: 7.25e1
variant carriers: 8

GenotypeDepth
all individuals: 3498
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variant carriers: 208

GenotypeDepth
all individuals: 111
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variant carriers: 11

GenotypeDepth
all individuals: 738
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variant carriers: 19

GenotypeDepth
all individuals: 348
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variant carriers: 10

GenotypeDepth
all individuals: 1142
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variant carriers: 58

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 61

GenotypeQuality
all individuals: 3312
bin: 7.5e0
variant carriers: 150

GenotypeQuality
all individuals: 9329
bin: 2.5e0
variant carriers: 95

GenotypeQuality
all individuals: 2450
bin: 4.75e1
variant carriers: 153

GenotypeQuality
all individuals: 2356
bin: 6.75e1
variant carriers: 69

GenotypeQuality
all individuals: 2804
bin: 4.25e1
variant carriers: 202

GenotypeQuality
all individuals: 6844
bin: 2.25e1
variant carriers: 254

GenotypeQuality
all individuals: 369
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variant carriers: 32

GenotypeQuality
all individuals: 1397
bin: 5.25e1
variant carriers: 150

GenotypeQuality
all individuals: 5239
bin: 3.25e1
variant carriers: 231

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 965
bin: 5.75e1
variant carriers: 123

GenotypeQuality
all individuals: 2041
bin: 1.75e1
variant carriers: 202

GenotypeQuality
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bin: 1.25e1
variant carriers: 206

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 38

GenotypeQuality
all individuals: 7168
bin: 6.25e1
variant carriers: 91

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 29

GenotypeQuality
all individuals: 2120
bin: 9.75e1
variant carriers: 155

GenotypeQuality
all individuals: 4332
bin: 2.75e1
variant carriers: 257

GenotypeQuality
all individuals: 4650
bin: 3.75e1
variant carriers: 270

African
type: Population
allele count: 173
allele frequency: 2.42296918767507e-2
allele num: 7140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 829
allele frequency: 1.760907430222184e-2
allele num: 47078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.469812630117973e-3
allele num: 5764
num of homozygotes: 0

East Asian
type: Population
allele count: 69
allele frequency: 1.160443995963673e-2
allele num: 5946
num of homozygotes: 0

Latino
type: Population
allele count: 184
allele frequency: 2.36382322713258e-2
allele num: 7784
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.96969696969697e-2
allele num: 660
num of homozygotes: 0

South Asian
type: Population
allele count: 844
allele frequency: 7.703541438481197e-2
allele num: 10956
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.517888e6

QD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeDepth
all individuals: 2194
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 1961
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 282
bin: 9.75e1
variant carriers: 25

GenotypeDepth
all individuals: 80
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variant carriers: 8

GenotypeDepth
all individuals: 111
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variant carriers: 9

GenotypeDepth
all individuals: 3498
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variant carriers: 8

GenotypeDepth
all individuals: 738
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variant carriers: 10

GenotypeDepth
all individuals: 7649
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variant carriers: 7

GenotypeDepth
all individuals: 486
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variant carriers: 4

GenotypeDepth
all individuals: 82
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variant carriers: 4

GenotypeQuality
all individuals: 9329
bin: 2.5e0
variant carriers: 10

GenotypeQuality
all individuals: 2356
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variant carriers: 10

GenotypeQuality
all individuals: 2450
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 4650
bin: 3.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2804
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 965
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variant carriers: 12

GenotypeQuality
all individuals: 3312
bin: 7.5e0
variant carriers: 14

GenotypeQuality
all individuals: 2421
bin: 1.25e1
variant carriers: 13

GenotypeQuality
all individuals: 2041
bin: 1.75e1
variant carriers: 16

GenotypeQuality
all individuals: 7168
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2120
bin: 9.75e1
variant carriers: 62

GenotypeQuality
all individuals: 5239
bin: 3.25e1
variant carriers: 23

GenotypeQuality
all individuals: 6844
bin: 2.25e1
variant carriers: 14

GenotypeQuality
all individuals: 4332
bin: 2.75e1
variant carriers: 15

GenotypeQuality
all individuals: 369
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variant carriers: 5

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1397
bin: 5.25e1
variant carriers: 18

Other
type: Population
allele count: 1
allele frequency: 1.515151515151515e-3
allele num: 660
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.214676889375684e-4
allele num: 10956
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 1.027749229188078e-3
allele num: 7784
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 2.354524049781365e-3
allele num: 5946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 187
allele frequency: 3.972131356472237e-3
allele num: 47078
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.820728291316527e-3
allele num: 7140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.469812630117973e-4
allele num: 5764
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.517888e6

QD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeDepth
all individuals: 13311
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2836
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2747
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variant carriers: 0

GenotypeDepth
all individuals: 928
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variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 113
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variant carriers: 0

GenotypeDepth
all individuals: 443
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variant carriers: 0

GenotypeDepth
all individuals: 66
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variant carriers: 0

GenotypeDepth
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 1499
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variant carriers: 0

GenotypeQuality
all individuals: 2589
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variant carriers: 0

GenotypeQuality
all individuals: 5662
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GenotypeQuality
all individuals: 768
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variant carriers: 0

GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 4679
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GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 12120
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variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 6200
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GenotypeQuality
all individuals: 1908
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variant carriers: 0

GenotypeQuality
all individuals: 7028
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variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1341
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GenotypeQuality
all individuals: 3630
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GenotypeQuality
all individuals: 1289
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variant carriers: 0

GenotypeQuality
all individuals: 211
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variant carriers: 0

GenotypeQuality
all individuals: 1682
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variant carriers: 0

GenotypeQuality
all individuals: 4215
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variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.233316088980859e-5
allele num: 61856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.43488e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.888e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeDepth
all individuals: 10501
bin: 2.75e1
variant carriers: 14

GenotypeDepth
all individuals: 5721
bin: 3.25e1
variant carriers: 13

GenotypeDepth
all individuals: 307
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variant carriers: 0

GenotypeDepth
all individuals: 78
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variant carriers: 0

GenotypeDepth
all individuals: 66
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variant carriers: 0

GenotypeDepth
all individuals: 443
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variant carriers: 1

GenotypeQuality
all individuals: 4679
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variant carriers: 0

GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 1499
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variant carriers: 0

GenotypeQuality
all individuals: 340
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variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 6200
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variant carriers: 0

GenotypeQuality
all individuals: 662
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variant carriers: 0

GenotypeQuality
all individuals: 2589
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5662
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variant carriers: 0

GenotypeQuality
all individuals: 1341
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1289
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 1682
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variant carriers: 0

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
all individuals: 1908
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variant carriers: 0

GenotypeQuality
all individuals: 3347
bin: 9.75e1
variant carriers: 97

South Asian
type: Population
allele count: 59
allele frequency: 3.656873682905665e-3
allele num: 16134
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.49663735126746e-4
allele num: 61856
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.097213078779899e-4
allele num: 9114
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.297016861219196e-4
allele num: 7710
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

MQ
type: SiteQuality
SIO_000300: 5.049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

QD
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.888e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 1.43488e6

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
all individuals: 181
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variant carriers: 0

GenotypeDepth
all individuals: 378
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variant carriers: 0

GenotypeDepth
all individuals: 233
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
all individuals: 104
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variant carriers: 0

GenotypeDepth
all individuals: 1083
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GenotypeDepth
all individuals: 1542
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variant carriers: 0

GenotypeDepth
all individuals: 628
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GenotypeDepth
all individuals: 144
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GenotypeDepth
all individuals: 7270
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GenotypeDepth
all individuals: 235
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GenotypeDepth
all individuals: 26
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GenotypeDepth
all individuals: 36
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GenotypeQuality
all individuals: 1321
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 2106
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GenotypeQuality
all individuals: 1639
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GenotypeQuality
all individuals: 919
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GenotypeQuality
all individuals: 1907
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GenotypeQuality
all individuals: 32698
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GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 2546
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GenotypeQuality
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GenotypeQuality
all individuals: 1352
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 6948
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GenotypeQuality
all individuals: 651
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GenotypeQuality
all individuals: 1745
bin: 9.75e1
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GenotypeQuality
all individuals: 310
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variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.507244e6

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
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variant carriers: 0

GenotypeDepth
all individuals: 104
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variant carriers: 0

GenotypeDepth
all individuals: 7305
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variant carriers: 1

GenotypeDepth
all individuals: 378
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variant carriers: 1

GenotypeDepth
all individuals: 232
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variant carriers: 0

GenotypeDepth
all individuals: 21704
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GenotypeDepth
all individuals: 74
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GenotypeDepth
all individuals: 3767
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GenotypeDepth
all individuals: 17539
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GenotypeDepth
all individuals: 1069
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GenotypeDepth
all individuals: 1542
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

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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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6856
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.522386177323748e-4
allele num: 15858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65210
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.93814801573114e-5
allele num: 11188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
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SIO_000300: -3.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

DP
type: SiteQuality
SIO_000300: 1.514586e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeDepth
all individuals: 36
bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.559969e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 3.424e0

BaseQRankSum
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SIO_000300: 2.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

VQSLOD
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SIO_000300: -1.229e0

ReadPosRankSum
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SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.352e0

MQ
type: SiteQuality
SIO_000300: 5.735e1

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeDepth
all individuals: 139
bin: 9.75e1
variant carriers: 77

GenotypeDepth
all individuals: 716
bin: 1.75e1
variant carriers: 31

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 55

GenotypeDepth
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variant carriers: 74

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 187

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 163

GenotypeDepth
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GenotypeDepth
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variant carriers: 26

GenotypeDepth
all individuals: 25
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GenotypeDepth
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GenotypeDepth
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variant carriers: 181

GenotypeDepth
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variant carriers: 196

GenotypeDepth
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variant carriers: 18

GenotypeQuality
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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: 1496

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 265
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variant carriers: 1

European (Finnish)
type: Population
allele count: 330
allele frequency: 5.069124423963134e-2
allele num: 6510
num of homozygotes: 11

Latino
type: Population
allele count: 119
allele frequency: 1.056650683715148e-2
allele num: 11262
num of homozygotes: 1

African
type: Population
allele count: 23
allele frequency: 2.250048914106829e-3
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.678403173816018e-4
allele num: 16132
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.674107142857143e-2
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1020
allele frequency: 1.553031456499893e-2
allele num: 65678
num of homozygotes: 10

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

DP
type: SiteQuality
SIO_000300: 1.60625e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

QD
type: SiteQuality
SIO_000300: 1.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

GenotypeQuality
all individuals: 1351
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variant carriers: 1

GenotypeQuality
all individuals: 1873
bin: 7.25e1
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: 10248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517266492686776e-5
allele num: 65908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
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SIO_000300: -3.43e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 5.659999999999999e-1

InbreedingCoeff
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SIO_000300: 1.6e-3

BaseQRankSum
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SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 1.592874e6

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 1364
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variant carriers: 4

GenotypeQuality
all individuals: 1901
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
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: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221896383186706e-4
allele num: 16368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.989e0

ClippingRankSum
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DP
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BaseQRankSum
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QD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
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SIO_000300: -2.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 1909
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GenotypeQuality
all individuals: 1818
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
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Latino
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African
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East Asian
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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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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Latino
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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QD
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FS
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Latino
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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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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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MQ
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DP
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QD
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BaseQRankSum
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VQSLOD
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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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European (Finnish)
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Latino
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East Asian
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African
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QD
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FS
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InbreedingCoeff
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MQ
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DP
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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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European (Finnish)
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African
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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DP
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ClippingRankSum
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QD
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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DP
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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Other
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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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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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
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SIO_000300: 1.618492e6

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8205
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7489
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1922
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66336
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.012e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 1.611556e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.072e0

GenotypeDepth
all individuals: 179
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 206
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variant carriers: 0

GenotypeDepth
all individuals: 388
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 1918
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 3

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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1827
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variant carriers: 0

GenotypeQuality
all individuals: 45847
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757160428747145e-4
allele num: 11382
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.611411e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.16e1

GenotypeDepth
all individuals: 23029
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
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variant carriers: 0

GenotypeDepth
all individuals: 93
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variant carriers: 1

GenotypeDepth
all individuals: 335
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 337
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.913752913752914e-4
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
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: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.798e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.611411e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 88
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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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variant carriers: 2

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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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
all individuals: 7471
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
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: 2
allele frequency: 1.217285453438831e-4
allele num: 16430
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 3.809e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 1.610301e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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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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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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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509388395822013e-5
allele num: 66252
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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.838e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 1.609981e6

ClippingRankSum
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SIO_000300: -2.214e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.385e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeDepth
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variant carriers: 0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 1

GenotypeDepth
all individuals: 1522
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45686
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7463
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.735202492211838e-4
allele num: 10272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 1.609318e6

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 6.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeDepth
all individuals: 517
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
all individuals: 710
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variant carriers: 0

GenotypeDepth
all individuals: 25424
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 587
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22389
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.600717e6

QD
type: SiteQuality
SIO_000300: 1.342e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 3.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeDepth
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25402
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
all individuals: 22220
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variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 789
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variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 207
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 44891
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.5e0
variant carriers: 0