17-58740956-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740957
    reference: chr 17
allele count: 32
allele frequency: 2.798523778706732e-4
allele num: 114346
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*680dupA
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*44dupA
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.525785779676533e-4
  allele num: 6554
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-58740956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740956
    reference: chr 17
allele count: 5
allele frequency: 4.372693404229269e-5
allele num: 114346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*679G>A
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*43G>A
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1203
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3644
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genotype quality: GenotypeQuality
  all individuals: 2708
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7956
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-58740959-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740959
    reference: chr 17
allele count: 5
allele frequency: 4.395527111611224e-5
allele num: 113752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*46G>T
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*682G>T
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2327
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9070
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

17-58740960-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740960
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740960
    reference: chr 17
allele count: 1
allele frequency: 8.791981712678038e-6
allele num: 113740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*683G>T
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*47G>T
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3894
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11292
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-58740961-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740962
    reference: chr 17
allele count: 1
allele frequency: 8.822699040090344e-6
allele num: 113344
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*53dupT
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*689dupT
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7862
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-58740963-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58740963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58740963
    reference: chr 17
allele count: 1
allele frequency: 8.822387691004694e-6
allele num: 113348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000306682
  ensembl transcript: ENST00000305921
  gene symbol: PPM1D
  hgvsc: ENST00000305921.3:c.*50T>A
  variant of: http://identifiers.org/hgnc/9277
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000170836
  ensembl protein: ENSP00000376720
  ensembl transcript: ENST00000392995
  gene symbol: PPM1D
  hgvsc: ENST00000392995.3:c.*686T>A
  variant of: http://identifiers.org/hgnc/9277
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11278
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

17-58756768-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756768
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756768
    reference: chr 17
allele count: 1
allele frequency: 8.338197281747686e-6
allele num: 119930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-46A>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

17-58756769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756769
    reference: chr 17
allele count: 3
allele frequency: 2.498709000349819e-5
allele num: 120062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-45T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-45T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-58756772-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756772
    reference: chr 17
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-42A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-42A>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12044
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-58756779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756779
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756779
    reference: chr 17
allele count: 3
allele frequency: 2.494678020223523e-5
allele num: 120256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-35T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-58756785-TTTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756781
    reference: chr 17
allele count: 5
allele frequency: 4.157796700372538e-5
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-14_59-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-14_50-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-14_24-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-14_48-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-14_-5-11delTGTT
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: TTTTG
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-58756786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756786
    reference: chr 17
allele count: 326
allele frequency: 2.7107031198031e-3
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-28T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-28T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
num of homozygotes: 6
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-58756787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756787
    reference: chr 17
allele count: 14
allele frequency: 1.16398949083774e-4
allele num: 120276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-27T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-58756789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756789
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756789
    reference: chr 17
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-25G>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-58756790-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756790
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756790
    reference: chr 17
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-24T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-24T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12077
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

17-58756797-G-GTTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756797
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756801
    reference: chr 17
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: GTTTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-14_24-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-14_59-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-14_50-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-14_-5-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-14_48-13insTTTT
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 5.75e1
  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: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-58756802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756802
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756802
    reference: chr 17
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-12T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-58756804-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756804
    reference: chr 17
allele count: 17
allele frequency: 1.411655290385797e-4
allele num: 120426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-10C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-10C>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-58756804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756804
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756804
    reference: chr 17
allele count: 5
allele frequency: 4.151927324664109e-5
allele num: 120426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-10C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-58756805-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756805
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756805
    reference: chr 17
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.50-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.59-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.48-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.24-9T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.-5-9T>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-58756820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756820
    reference: chr 17
allele count: 4
allele frequency: 3.317684919463199e-5
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.2T>C
  hgvsp: ENSP00000464864.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.2T>C
  hgvsp: ENSP00000466078.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.2T>C
  hgvsp: ENSP00000468592.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.2T>C
  hgvsp: ENSP00000386173.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.2T>C
  hgvsp: ENSP00000466075.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.2T>C
  hgvsp: ENSP00000467743.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.56T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.2T>C
  hgvsp: ENSP00000375067.4:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.2T>C
  hgvsp: ENSP00000465328.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.54T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.2T>C
  hgvsp: ENSP00000385323.2:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.2T>C
  hgvsp: ENSP00000465441.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.30T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.65T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-58756830-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756830
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756830
    reference: chr 17
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.12T>C
  hgvsp: ENST00000407086.3:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.12T>C
  hgvsp: ENST00000588168.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.64T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.12T>C
  hgvsp: ENST00000408905.3:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.12T>C
  hgvsp: ENST00000586241.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.12T>C
  hgvsp: ENST00000588532.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.40T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.12T>C
  hgvsp: ENST00000592848.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.66T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.12T>C
  hgvsp: ENST00000591147.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.12T>C
  hgvsp: ENST00000390652.5:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.12T>C
  hgvsp: ENST00000589222.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.12T>C
  hgvsp: ENST00000588462.1:c.12T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.75T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala4Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-58756838-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756838
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756838
    reference: chr 17
allele count: 8
allele frequency: 6.634709482658528e-5
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.20C>A
  hgvsp: ENSP00000467743.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.20C>A
  hgvsp: ENSP00000466078.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.74C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.72C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.20C>A
  hgvsp: ENSP00000465328.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.20C>A
  hgvsp: ENSP00000385323.2:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.83C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.20C>A
  hgvsp: ENSP00000465441.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.48C>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.20C>A
  hgvsp: ENSP00000468592.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.20C>A
  hgvsp: ENSP00000386173.2:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.20C>A
  hgvsp: ENSP00000464864.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.20C>A
  hgvsp: ENSP00000375067.4:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.20C>A
  hgvsp: ENSP00000466075.1:p.Thr7Lys
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr7Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

17-58756844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756844
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756844
    reference: chr 17
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.26C>T
  hgvsp: ENSP00000465328.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.54C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.80C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.26C>T
  hgvsp: ENSP00000465441.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.26C>T
  hgvsp: ENSP00000467743.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.26C>T
  hgvsp: ENSP00000375067.4:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.78C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.26C>T
  hgvsp: ENSP00000385323.2:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.26C>T
  hgvsp: ENSP00000466075.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.26C>T
  hgvsp: ENSP00000386173.2:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.26C>T
  hgvsp: ENSP00000466078.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.26C>T
  hgvsp: ENSP00000464864.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.26C>T
  hgvsp: ENSP00000468592.1:p.Ser9Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.89C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser9Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-58756861-CGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756858
    reference: chr 17
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.46_48delTGT
  hgvsp: ENSP00000466075.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.46_48delTGT
  hgvsp: ENSP00000464864.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.46_48delTGT
  hgvsp: ENSP00000386173.2:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.46_48delTGT
  hgvsp: ENSP00000465328.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.46_48delTGT
  hgvsp: ENSP00000468592.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.98_100delTGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.46_48delTGT
  hgvsp: ENSP00000375067.4:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.46_48delTGT
  hgvsp: ENSP00000465441.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.46_48delTGT
  hgvsp: ENSP00000467743.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.46_48delTGT
  hgvsp: ENSP00000466078.1:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.74_76delTGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.100_102delTGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.46_48delTGT
  hgvsp: ENSP00000385323.2:p.Cys16del
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.109_111delTGT
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys16del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: CGTT
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

17-58756862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756862
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756862
    reference: chr 17
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.44G>A
  hgvsp: ENSP00000466078.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.44G>A
  hgvsp: ENSP00000375067.4:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.44G>A
  hgvsp: ENSP00000385323.2:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.72G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.44G>A
  hgvsp: ENSP00000464864.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.96G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.44G>A
  hgvsp: ENSP00000465441.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.44G>A
  hgvsp: ENSP00000467743.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.44G>A
  hgvsp: ENSP00000465328.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.98G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.44G>A
  hgvsp: ENSP00000468592.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.44G>A
  hgvsp: ENSP00000386173.2:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.44G>A
  hgvsp: ENSP00000466075.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.107G>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg15His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

17-58756870-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756870
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756870
    reference: chr 17
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.52G>C
  hgvsp: ENSP00000466075.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.52G>C
  hgvsp: ENSP00000464864.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.115G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.104G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.52G>C
  hgvsp: ENSP00000375067.4:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.52G>C
  hgvsp: ENSP00000466078.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.52G>C
  hgvsp: ENSP00000468592.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.52G>C
  hgvsp: ENSP00000467743.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.52G>C
  hgvsp: ENSP00000465441.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.52G>C
  hgvsp: ENSP00000386173.2:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.52G>C
  hgvsp: ENSP00000465328.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.52G>C
  hgvsp: ENSP00000385323.2:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.106G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.80G>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly18Arg
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: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

17-58756877-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756877
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756877
    reference: chr 17
allele count: 2
allele frequency: 1.65812731101494e-5
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.59T>C
  hgvsp: ENSP00000385323.2:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.59T>C
  hgvsp: ENSP00000467743.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.59T>C
  hgvsp: ENSP00000468592.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.59T>C
  hgvsp: ENSP00000465328.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.59T>C
  hgvsp: ENSP00000466078.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.111T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.59T>C
  hgvsp: ENSP00000464864.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.59T>C
  hgvsp: ENSP00000466075.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.59T>C
  hgvsp: ENSP00000465441.1:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.87T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.59T>C
  hgvsp: ENSP00000375067.4:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.122T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.113T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.59T>C
  hgvsp: ENSP00000386173.2:p.Val20Ala
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val20Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-58756882-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756882
    reference: chr 17
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.64G>T
  hgvsp: ENSP00000464864.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.64G>T
  hgvsp: ENSP00000468592.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.64G>T
  hgvsp: ENSP00000465328.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.64G>T
  hgvsp: ENSP00000375067.4:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.64G>T
  hgvsp: ENSP00000465441.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.92G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.64G>T
  hgvsp: ENSP00000386173.2:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.64G>T
  hgvsp: ENSP00000385323.2:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.64G>T
  hgvsp: ENSP00000467743.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.64G>T
  hgvsp: ENSP00000466078.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.116G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.64G>T
  hgvsp: ENSP00000466075.1:p.Val22Phe
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.118G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.127G>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val22Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-58756885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756885
    reference: chr 17
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.121C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.67C>T
  hgvsp: ENSP00000375067.4:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.67C>T
  hgvsp: ENSP00000466075.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.67C>T
  hgvsp: ENSP00000468592.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.67C>T
  hgvsp: ENSP00000464864.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.67C>T
  hgvsp: ENSP00000466078.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.67C>T
  hgvsp: ENSP00000467743.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.67C>T
  hgvsp: ENSP00000465441.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.67C>T
  hgvsp: ENSP00000386173.2:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.95C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.67C>T
  hgvsp: ENSP00000385323.2:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.119C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.67C>T
  hgvsp: ENSP00000465328.1:p.Arg23Cys
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.130C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg23Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-58756886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756886
    reference: chr 17
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.68G>A
  hgvsp: ENSP00000467743.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.131G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.68G>A
  hgvsp: ENSP00000464864.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.122G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.68G>A
  hgvsp: ENSP00000468592.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.68G>A
  hgvsp: ENSP00000386173.2:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.68G>A
  hgvsp: ENSP00000466075.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.68G>A
  hgvsp: ENSP00000385323.2:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.68G>A
  hgvsp: ENSP00000375067.4:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.68G>A
  hgvsp: ENSP00000465441.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.68G>A
  hgvsp: ENSP00000465328.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.68G>A
  hgvsp: ENSP00000466078.1:p.Arg23His
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.96G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.120G>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-58756887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756887
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756887
    reference: chr 17
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.69C>T
  hgvsp: ENST00000591147.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.69C>T
  hgvsp: ENST00000589222.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.69C>T
  hgvsp: ENST00000408905.3:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.69C>T
  hgvsp: ENST00000588462.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.69C>T
  hgvsp: ENST00000390652.5:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.69C>T
  hgvsp: ENST00000407086.3:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.69C>T
  hgvsp: ENST00000588532.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.69C>T
  hgvsp: ENST00000588168.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.132C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.69C>T
  hgvsp: ENST00000586241.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.97C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.69C>T
  hgvsp: ENST00000592848.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.121C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.123C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg23Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-58756888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756888
    reference: chr 17
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.70C>T
  hgvsp: ENSP00000467743.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.122C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.70C>T
  hgvsp: ENSP00000466078.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.70C>T
  hgvsp: ENSP00000466075.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.70C>T
  hgvsp: ENSP00000385323.2:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.133C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.98C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.70C>T
  hgvsp: ENSP00000375067.4:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.70C>T
  hgvsp: ENSP00000464864.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.70C>T
  hgvsp: ENSP00000465441.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.70C>T
  hgvsp: ENSP00000465328.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.70C>T
  hgvsp: ENSP00000468592.1:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.70C>T
  hgvsp: ENSP00000386173.2:p.Pro24Ser
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.124C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro24Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

17-58756901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756901
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756901
    reference: chr 17
allele count: 2
allele frequency: 1.659007581664648e-5
allele num: 120554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83C>T
  hgvsp: ENSP00000385323.2:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83C>T
  hgvsp: ENSP00000466078.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83C>T
  hgvsp: ENSP00000467743.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83C>T
  hgvsp: ENSP00000465441.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83C>T
  hgvsp: ENSP00000466075.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83C>T
  hgvsp: ENSP00000464864.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83C>T
  hgvsp: ENSP00000465328.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83C>T
  hgvsp: ENSP00000375067.4:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83C>T
  hgvsp: ENSP00000386173.2:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83C>T
  hgvsp: ENSP00000468592.1:p.Thr28Ile
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr28Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-58756920-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756920
    reference: chr 17
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+19A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+19A>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

17-58756926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756926
    reference: chr 17
allele count: 22
allele frequency: 1.825786748107821e-4
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+25A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+25A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

17-58756928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756928
    reference: chr 17
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+27A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-58756940-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756940
    reference: chr 17
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+39G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+39G>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-58756951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756951
    reference: chr 17
allele count: 3
allele frequency: 2.491321895397698e-5
allele num: 120418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+50A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-58756952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58756952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58756952
    reference: chr 17
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.137+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.146+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.111+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.135+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+51T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-58761292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761292
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761292
    reference: chr 17
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4391G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-51G>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-58761295-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761295
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761295
    reference: chr 17
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4394C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-48C>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-58761301-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761301
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761301
    reference: chr 17
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4400T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-42T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-42T>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-58761306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761306
    reference: chr 17
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4405T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-37T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/17-58761313-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761313
    reference: chr 17
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4412A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-30A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-30A>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-58761314-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761314
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761314
    reference: chr 17
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4413C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-29C>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-58761320-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761320
    reference: chr 17
allele count: 4
allele frequency: 3.313617310336829e-5
allele num: 120714
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4419T>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-23T>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-58761327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761327
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761327
    reference: chr 17
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.147-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.136-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.112-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.138-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4426T>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.84-16T>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-58761348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761348
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761348
    reference: chr 17
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.89A>G
  hgvsp: ENSP00000468592.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.89A>G
  hgvsp: ENSP00000385323.2:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.89A>G
  hgvsp: ENSP00000467743.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.89A>G
  hgvsp: ENSP00000466078.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.143A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.89A>G
  hgvsp: ENSP00000375067.4:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.89A>G
  hgvsp: ENSP00000465441.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.89A>G
  hgvsp: ENSP00000466075.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.89A>G
  hgvsp: ENSP00000465328.1:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.152A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.141A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.89A>G
  hgvsp: ENSP00000386173.2:p.Gln30Arg
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4447A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.117A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln30Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-58761353-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761353
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761353
    reference: chr 17
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.94T>A
  hgvsp: ENSP00000385323.2:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.94T>A
  hgvsp: ENSP00000467743.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.94T>A
  hgvsp: ENSP00000468592.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.94T>A
  hgvsp: ENSP00000375067.4:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.122T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.94T>A
  hgvsp: ENSP00000466075.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4452T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.94T>A
  hgvsp: ENSP00000465328.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.94T>A
  hgvsp: ENSP00000465441.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.157T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.148T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.94T>A
  hgvsp: ENSP00000466078.1:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.146T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.94T>A
  hgvsp: ENSP00000386173.2:p.Tyr32Asn
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr32Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

17-58761363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761363
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761363
    reference: chr 17
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.104G>C
  hgvsp: ENSP00000465441.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.158G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.104G>C
  hgvsp: ENSP00000466075.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4462G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.104G>C
  hgvsp: ENSP00000375067.4:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.104G>C
  hgvsp: ENSP00000385323.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.104G>C
  hgvsp: ENSP00000466078.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.132G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.167G>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.104G>C
  hgvsp: ENSP00000468592.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.104G>C
  hgvsp: ENSP00000465328.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.104G>C
  hgvsp: ENSP00000386173.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.104G>C
  hgvsp: ENSP00000467743.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.156G>C
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-58761391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761391
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761391
    reference: chr 17
allele count: 3
allele frequency: 2.484307457890989e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.186G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.132G>A
  hgvsp: ENST00000588462.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.184G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.132G>A
  hgvsp: ENST00000407086.3:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.132G>A
  hgvsp: ENST00000588168.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.132G>A
  hgvsp: ENST00000591147.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.132G>A
  hgvsp: ENST00000390652.5:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.195G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.132G>A
  hgvsp: ENST00000588532.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4490G>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.132G>A
  hgvsp: ENST00000408905.3:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.132G>A
  hgvsp: ENST00000589222.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.132G>A
  hgvsp: ENST00000592848.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.160G>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val44Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

17-58761394-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761394
    reference: chr 17
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.135A>G
  hgvsp: ENST00000588168.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.187A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.163A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.135A>G
  hgvsp: ENST00000592848.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.135A>G
  hgvsp: ENST00000390652.5:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.135A>G
  hgvsp: ENST00000591147.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.135A>G
  hgvsp: ENST00000407086.3:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.135A>G
  hgvsp: ENST00000589222.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.135A>G
  hgvsp: ENST00000588462.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.189A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.135A>G
  hgvsp: ENST00000588532.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4493A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.135A>G
  hgvsp: ENST00000408905.3:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.198A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro45Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-58761397-GGTAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761393
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+3_201+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+3_166+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+3_192+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+3_190+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4499_83+4502delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+3_138+6delAAGT
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.138+3_138+6delAAGT
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: GGTAA
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

17-58761403-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761403
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761403
    reference: chr 17
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+6T>A
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4502T>A
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.138+6T>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-58761408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761408
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761408
    reference: chr 17
allele count: 6
allele frequency: 4.969355640218652e-5
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+11A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4507A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-58761419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761419
    reference: chr 17
allele count: 2
allele frequency: 1.656726308813784e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4518C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+22C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-58761421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761421
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761421
    reference: chr 17
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+24C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4520C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-58761428-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761428
    reference: chr 17
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4527C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+31C>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+31C>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

17-58761444-T-TTAATATAGAACATGAAAAAAGCTCTATTTACAAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761444
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761479
    reference: chr 17
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: TTAATATAGAACATGAAAAAAGCTCTATTTACAAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-58761447-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58761447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58761447
    reference: chr 17
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.166+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.192+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.190+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.201+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+4546G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.138+50G>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-58765383-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58765383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58765382
    reference: chr 17
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.142delT
  hgvsp: ENSP00000467743.1:p.Ser48GlnfsTer38
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.142delT
  hgvsp: ENSP00000465441.1:p.Ser48GlnfsTer38
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-1663delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.139-909delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+8483delT
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-1663delT
  variant of: http://identifiers.org/hgnc/14347
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser48GlnfsTer38
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: AT
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-58765385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58765385
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58765385
    reference: chr 17
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.143C>T
  hgvsp: ENSP00000467743.1:p.Ser48Leu
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.143C>T
  hgvsp: ENSP00000465441.1:p.Ser48Leu
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+8484C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.139-908C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-1662C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser48Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-58765386-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58765386
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58765386
    reference: chr 17
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+8485A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.144A>C
  hgvsp: ENST00000588532.1:c.144A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.144A>C
  hgvsp: ENST00000592848.1:c.144A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.139-907A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-1661A>C
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-1661A>C
  variant of: http://identifiers.org/hgnc/14347
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser48Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-58765392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58765392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58765392
    reference: chr 17
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.150C>T
  hgvsp: ENST00000592848.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.139-901C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-1655C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.150C>T
  hgvsp: ENST00000588532.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+8491C>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-1655C>T
  variant of: http://identifiers.org/hgnc/14347
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val50Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

17-58766265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58766265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58766265
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.*152+709A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.139-28A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+9364A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.*153-28A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-782A>G
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-782A>G
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

17-58766996-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58766996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 58766996
    reference: chr 17
allele count: 1
allele frequency: 8.704432296925594e-6
allele num: 114884
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000375067
  ensembl transcript: ENST00000390652
  gene symbol: BCAS3
  hgvsc: ENST00000390652.5:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000593004
  gene symbol: BCAS3
  hgvsc: ENST00000593004.1:n.193-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000591371
  gene symbol: BCAS3
  hgvsc: ENST00000591371.1:n.202-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000386173
  ensembl transcript: ENST00000408905
  gene symbol: BCAS3
  hgvsc: ENST00000408905.3:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466075
  ensembl transcript: ENST00000591147
  gene symbol: BCAS3
  hgvsc: ENST00000591147.1:c.*83-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465441
  ensembl transcript: ENST00000588532
  gene symbol: BCAS3
  hgvsc: ENST00000588532.1:c.*268-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000592393
  gene symbol: BCAS3
  hgvsc: ENST00000592393.1:n.167-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000464864
  ensembl transcript: ENST00000586241
  gene symbol: BCAS3
  hgvsc: ENST00000586241.1:c.83+10095A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000466078
  ensembl transcript: ENST00000589222
  gene symbol: BCAS3
  hgvsc: ENST00000589222.1:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl transcript: ENST00000589916
  gene symbol: BCAS3
  hgvsc: ENST00000589916.1:n.191-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000465328
  ensembl transcript: ENST00000588168
  gene symbol: BCAS3
  hgvsc: ENST00000588168.1:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000385323
  ensembl transcript: ENST00000407086
  gene symbol: BCAS3
  hgvsc: ENST00000407086.3:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000467743
  ensembl transcript: ENST00000592848
  gene symbol: BCAS3
  hgvsc: ENST00000592848.1:c.*153-51A>T
  variant of: http://identifiers.org/hgnc/14347
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141376
  ensembl protein: ENSP00000468592
  ensembl transcript: ENST00000588462
  gene symbol: BCAS3
  hgvsc: ENST00000588462.1:c.139-51A>T
  variant of: http://identifiers.org/hgnc/14347
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.742783065102602e-4
allele num: 63254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.57023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

South Asian
type: Population
allele count: 3
allele frequency: 1.96078431372549e-4
allele num: 15300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.161855376735068e-5
allele num: 63254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

DP
type: SiteQuality
SIO_000300: 1.57023e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.333924499619965e-4
allele num: 7894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.555398e6

VQSLOD
type: SiteQuality
SIO_000300: -7.935e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 9.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.92e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62970
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.616382162233691e-5
allele num: 15114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.55201e6

QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592458118351487e-5
allele num: 62796
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.134e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.548639e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-4
allele num: 6544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.543698e6

VQSLOD
type: SiteQuality
SIO_000300: -3.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.212e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 3.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 3015
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -3.174e0

MQ
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InbreedingCoeff
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SIO_000300: -2.5e-3

QD
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DP
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ClippingRankSum
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SIO_000300: -1.675e0

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.497318722312894e-4
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

QD
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SIO_000300: 1.634e1

BaseQRankSum
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SIO_000300: 6.58e0

MQRankSum
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SIO_000300: 4.14e-1

DP
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SIO_000300: 4.326587e6

InbreedingCoeff
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SIO_000300: -1.9e-3

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.419e0

ReadPosRankSum
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SIO_000300: 1.79e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 917
bin: 9.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.339e1

VQSLOD
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SIO_000300: 1.68e-1

DP
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InbreedingCoeff
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SIO_000300: 2.4e-3

BaseQRankSum
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MQRankSum
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SIO_000300: -3.82e-1

ReadPosRankSum
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SIO_000300: 2.49e0

ClippingRankSum
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SIO_000300: -2.661e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
all individuals: 49974
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513178481165002e-5
allele num: 66472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.636e1

MQRankSum
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SIO_000300: -4.05e-1

ClippingRankSum
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SIO_000300: 7.5e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
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SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 4.336009e6

GenotypeDepth
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variant carriers: 3

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: 923
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GenotypeQuality
all individuals: 624
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009057262359703e-5
allele num: 66466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.055921052631579e-4
allele num: 9728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.488e0

QD
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SIO_000300: 1.189e1

MQRankSum
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SIO_000300: -2.45e-1

ClippingRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

GenotypeDepth
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variant carriers: 24

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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bin: 9.75e1
variant carriers: 319

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.056766762649116e-4
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.761208401035084e-4
allele num: 66468
num of homozygotes: 0

Other
type: Population
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allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

South Asian
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allele count: 294
allele frequency: 1.786799562416434e-2
allele num: 16454
num of homozygotes: 6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 8.32e-1

DP
type: SiteQuality
SIO_000300: 4.34619e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 14
allele frequency: 1.630561378989052e-3
allele num: 8586
num of homozygotes: 0

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

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

African
type: Population
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num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
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SIO_000300: 5.934e1

FS
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SIO_000300: 2.064e0

BaseQRankSum
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SIO_000300: -3.306e0

VQSLOD
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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SIO_000300: 2.66e-1

ReadPosRankSum
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SIO_000300: -9.31e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.75e1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: 5.570000000000001e-1

QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.9e-3

MQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 4.345171e6

VQSLOD
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SIO_000300: -1.502e0

GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66522
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Other
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African
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East Asian
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Latino
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ReadPosRankSum
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SIO_000300: -1.208e0

InbreedingCoeff
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SIO_000300: 2.9e-3

MQ
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SIO_000300: 5.784e1

ClippingRankSum
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QD
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FS
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DP
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MQRankSum
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VQSLOD
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SIO_000300: -1.119e0

BaseQRankSum
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SIO_000300: -1.509e0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

Other
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East Asian
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.952e1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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InbreedingCoeff
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SIO_000300: 1.38e-2

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

Other
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South Asian
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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 count: 17
allele frequency: 2.554623869203258e-4
allele num: 66546
num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.5135996153037e-5
allele num: 66546
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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Other
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Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16496
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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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Other
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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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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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 3.463203463203463e-4
allele num: 11550
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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MQ
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.000120004800192e-5
allele num: 66664
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South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 5.991e1

FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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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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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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African
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European (Non-Finnish)
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allele num: 66632
num of homozygotes: 0

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

QD
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

QD
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SIO_000300: 1.214e1

BaseQRankSum
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SIO_000300: -1.99e-1

MQRankSum
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SIO_000300: -7.55e-1

InbreedingCoeff
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SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: -1.167e-1

DP
type: SiteQuality
SIO_000300: 4.353098e6

FS
type: SiteQuality
SIO_000300: 6.503e0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
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SIO_000300: 2.39e-1

MQRankSum
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SIO_000300: 2.0e0

BaseQRankSum
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SIO_000300: 5.83e0

DP
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SIO_000300: 4.352482e6

QD
type: SiteQuality
SIO_000300: 1.278e1

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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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

DP
type: SiteQuality
SIO_000300: 4.350112e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
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SIO_000300: 7.0e-1

ReadPosRankSum
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SIO_000300: 4.2e-2

BaseQRankSum
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SIO_000300: -5.699e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-1

GenotypeDepth
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bin: 9.75e1
variant carriers: 11

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 935
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.334465607181851e-3
allele num: 16486
num of homozygotes: 1

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: 66568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 3.97e0

DP
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MQ
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SIO_000300: 5.974e1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 1.01e-1

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 3.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
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SIO_000300: -6.900000000000001e-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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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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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -9.66e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeDepth
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bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

Other
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VQSLOD
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: 3.17e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 3.076292042657916e-4
allele num: 9752
num of homozygotes: 0

Other
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Latino
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FS
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

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

South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66666
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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QD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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Other
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Latino
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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African
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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African
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European (Finnish)
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South Asian
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MQ
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66690
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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FS
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DP
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InbreedingCoeff
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QD
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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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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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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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

African
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Latino
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South Asian
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European (Finnish)
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66704
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DP
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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Other
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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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European (Finnish)
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South Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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DP
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QD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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East Asian
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Latino
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South Asian
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Other
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DP
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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Other
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InbreedingCoeff
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MQ
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DP
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QD
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.84611e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

QD
type: SiteQuality
SIO_000300: 8.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

GenotypeDepth
all individuals: 4465
bin: 4.25e1
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: 2

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 1.154e0

QD
type: SiteQuality
SIO_000300: 1.177e1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.845931e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeDepth
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bin: 2.25e1
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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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.726e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 4.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 3.845727e6

MQRankSum
type: SiteQuality
SIO_000300: -5.93e-1

QD
type: SiteQuality
SIO_000300: 5.56e0

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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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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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 1894
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1615
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 66722
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: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 5.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 3.845553e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
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SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeDepth
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bin: 3.75e1
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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
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SIO_000300: 6.94e0

ReadPosRankSum
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SIO_000300: 1.04e0

FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.845565e6

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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
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East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 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: 11576
num of homozygotes: 0

Other
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African
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DP
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MQ
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InbreedingCoeff
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South Asian
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VQSLOD
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DP
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MQ
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DP
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 6

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

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

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

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

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

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

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 5

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.791e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.811e3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 6.535e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.17e-2

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 7.5e0
variant carriers: 0

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 353
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 0
bin: 9.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.153e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.287e3

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0