18-47813994-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47813994
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47813994
    reference: chr 18
allele count: 4
allele frequency: 3.332500208281263e-5
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000390475
  ensembl transcript: ENST00000412036
  gene symbol: CXXC1
  hgvsc: ENST00000412036.2:c.-35C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.78C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-35C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.56C>T
  variant of: http://identifiers.org/hgnc/24343
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 40916
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

18-47813996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47813996
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47813996
    reference: chr 18
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.76G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-37G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.54G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000390475
  ensembl transcript: ENST00000412036
  gene symbol: CXXC1
  hgvsc: ENST00000412036.2:c.-37G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/24343
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 71
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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: 2539
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-47813998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47813998
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47813998
    reference: chr 18
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000390475
  ensembl transcript: ENST00000412036
  gene symbol: CXXC1
  hgvsc: ENST00000412036.2:c.-39C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-39C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.52C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.74C>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/24343
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 4052
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  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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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: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  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
  all individuals: 2112
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genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-47814003-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814003
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47814003
    reference: chr 18
allele count: 3
allele frequency: 2.499958334027766e-5
allele num: 120002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-44G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.69G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.47G>C
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000390475
  ensembl transcript: ENST00000412036
  gene symbol: CXXC1
  hgvsc: ENST00000412036.2:c.-44G>C
  variant of: http://identifiers.org/hgnc/24343
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-47814004-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814004
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47814004
    reference: chr 18
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-45G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.68G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-45G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000390475
  ensembl transcript: ENST00000412036
  gene symbol: CXXC1
  hgvsc: ENST00000412036.2:c.-45G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-45G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.46G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-45G>T
  variant of: http://identifiers.org/hgnc/24343
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-47814010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47814010
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47814010
    reference: chr 18
allele count: 8
allele frequency: 6.677461896733052e-5
allele num: 119806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000465849
  ensembl transcript: ENST00000591474
  gene symbol: CXXC1
  hgvsc: ENST00000591474.1:c.-51G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000587396
  gene symbol: CXXC1
  hgvsc: ENST00000587396.1:n.40G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000467634
  ensembl transcript: ENST00000589940
  gene symbol: CXXC1
  hgvsc: ENST00000589940.1:c.-51G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154832
  ensembl transcript: ENST00000586365
  gene symbol: CXXC1
  hgvsc: ENST00000586365.1:n.62G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000468038
  ensembl transcript: ENST00000589548
  gene symbol: CXXC1
  hgvsc: ENST00000589548.1:c.-51G>T
  variant of: http://identifiers.org/hgnc/24343
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154832
  ensembl protein: ENSP00000285106
  ensembl transcript: ENST00000285106
  gene symbol: CXXC1
  hgvsc: ENST00000285106.6:c.-51G>T
  variant of: http://identifiers.org/hgnc/24343
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

18-47902151-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902151
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902152
    reference: chr 18
allele count: 2
allele frequency: 1.704041987594574e-5
allele num: 117368
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-35dupT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-35dupT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-35dupT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-35dupT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-35dupT
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8429
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

18-47902157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902157
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902157
    reference: chr 18
allele count: 1
allele frequency: 8.490694199157722e-6
allele num: 117776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-33T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-33T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-33T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-33T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-33T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-47902163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902163
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902163
    reference: chr 18
allele count: 900
allele frequency: 7.639938201388771e-3
allele num: 117802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-27C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-27C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-27C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-27C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-27C>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 18051
  bin: 2.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12930
  bin: 2.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6095
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9106
  bin: 9.75e1
  variant carriers: 883
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 9
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

18-47902165-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902165
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902163
    reference: chr 18
allele count: 2
allele frequency: 1.692247812769702e-5
allele num: 118186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-22_-11-21delAT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-22_-11-21delAT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-22_-294-21delAT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-22_-201-21delAT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-22_-11-21delAT
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: AAT
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-47902168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902168
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902168
    reference: chr 18
allele count: 9
allele frequency: 7.605076811275793e-5
allele num: 118342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-22A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-22A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-22A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-22A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-22A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13647
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20102
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8418
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

18-47902170-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902170
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902169
    reference: chr 18
allele count: 2
allele frequency: 1.688504660272862e-5
allele num: 118448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-17delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-17delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-17delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-17delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-17delT
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 20700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: GT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

18-47902173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902173
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902173
    reference: chr 18
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-17T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-17T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-17T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-17T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-17T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28048
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

18-47902176-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902176
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902178
    reference: chr 18
allele count: 1
allele frequency: 8.409014463504877e-6
allele num: 118920
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-8_-11-7dupTT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-8_-11-7dupTT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-8_-201-7dupTT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-8_-294-7dupTT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-8_-11-7dupTT
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

18-47902176-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902176
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902175
    reference: chr 18
allele count: 2
allele frequency: 1.681802892700975e-5
allele num: 118920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-7delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-7delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-7delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-7delT
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-7delT
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28603
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: GT
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

18-47902183-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902183
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902182
    reference: chr 18
allele count: 7
allele frequency: 5.848344083146744e-5
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-6delC
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-6delC
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-6delC
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-6delC
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-6delC
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
hgvs: c.-11-6delC
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: TC
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

18-47902186-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902186
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902186
    reference: chr 18
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-4T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-4T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-4T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-4T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-4T>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
hgvs: c.-11-4T>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

18-47902188-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902188
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902188
    reference: chr 18
allele count: 2
allele frequency: 1.66306336271412e-5
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-201-2A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-11-2A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-294-2A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-11-2A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-11-2A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: c.-11-2A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

18-47902193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902193
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902193
    reference: chr 18
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-291C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-198C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-8C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-8C>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 23872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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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: 6689
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genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
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genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31881
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

18-47902195-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902195
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902195
    reference: chr 18
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-6T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-289T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-6T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-6T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-196T>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23936
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

18-47902199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902199
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902199
    reference: chr 18
allele count: 3
allele frequency: 2.482621648460775e-5
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.-2G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.-2G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-192G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.-2G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-285G>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

18-47902204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902204
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902204
    reference: chr 18
allele count: 2
allele frequency: 1.653302471687195e-5
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.4G>A
  hgvsp: ENSP00000285116.3:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-280G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.4G>A
  hgvsp: ENSP00000397222.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.4G>A
  hgvsp: ENSP00000381470.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-187G>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

18-47902205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902205
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902205
    reference: chr 18
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.5C>T
  hgvsp: ENSP00000285116.3:p.Ala2Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.5C>T
  hgvsp: ENSP00000381470.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-279C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.5C>T
  hgvsp: ENSP00000397222.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-186C>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-47902208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902208
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902208
    reference: chr 18
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-183C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.8C>T
  hgvsp: ENSP00000381470.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.8C>T
  hgvsp: ENSP00000285116.3:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.8C>T
  hgvsp: ENSP00000397222.1:p.Ser3Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-276C>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser3Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

18-47902209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902209
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902209
    reference: chr 18
allele count: 8
allele frequency: 6.608293408227325e-5
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.9G>A
  hgvsp: ENST00000285116.3:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.9G>A
  hgvsp: ENST00000398452.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.9G>A
  hgvsp: ENST00000417656.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-275G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-182G>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser3Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

18-47902218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902218
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902218
    reference: chr 18
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-173G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-266G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.18G>A
  hgvsp: ENST00000285116.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.18G>A
  hgvsp: ENST00000398452.2:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.18G>A
  hgvsp: ENST00000417656.2:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu6Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/18-47902222-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902222
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902222
    reference: chr 18
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.22C>A
  hgvsp: ENSP00000381470.1:p.Gln8Lys
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.22C>A
  hgvsp: ENSP00000285116.3:p.Gln8Lys
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.22C>A
  hgvsp: ENSP00000397222.1:p.Gln8Lys
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-262C>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-169C>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln8Lys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

18-47902224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902224
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902224
    reference: chr 18
allele count: 4
allele frequency: 3.301419610432486e-5
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.24A>G
  hgvsp: ENST00000417656.2:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.24A>G
  hgvsp: ENST00000285116.3:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-167A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-260A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.24A>G
  hgvsp: ENST00000398452.2:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln8Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

18-47902228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902228
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902228
    reference: chr 18
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.28T>C
  hgvsp: ENSP00000381470.1:p.Cys10Arg
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-256T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-163T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.28T>C
  hgvsp: ENSP00000285116.3:p.Cys10Arg
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.28T>C
  hgvsp: ENSP00000397222.1:p.Cys10Arg
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys10Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

18-47902235-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902235
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902235
    reference: chr 18
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.35A>T
  hgvsp: ENSP00000381470.1:p.His12Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.35A>T
  hgvsp: ENSP00000285116.3:p.His12Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-156A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.35A>T
  hgvsp: ENSP00000397222.1:p.His12Leu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-249A>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His12Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

18-47902236-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902236
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902236
    reference: chr 18
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-248T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.36T>C
  hgvsp: ENST00000398452.2:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-155T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.36T>C
  hgvsp: ENST00000417656.2:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.36T>C
  hgvsp: ENST00000285116.3:c.36T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15427
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His12His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

18-47902261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902261
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902261
    reference: chr 18
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-130A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-223A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.61A>G
  hgvsp: ENSP00000285116.3:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.61A>G
  hgvsp: ENSP00000397222.1:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.61A>G
  hgvsp: ENSP00000381470.1:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys21Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/18-47902265-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902265
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902265
    reference: chr 18
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-126A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.65A>C
  hgvsp: ENSP00000397222.1:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.65A>C
  hgvsp: ENSP00000285116.3:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-219A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.65A>C
  hgvsp: ENSP00000381470.1:p.Lys22Thr
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys22Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

18-47902274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902274
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902274
    reference: chr 18
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-117C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-210C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.74C>G
  hgvsp: ENSP00000285116.3:p.Ser25Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.74C>G
  hgvsp: ENSP00000397222.1:p.Ser25Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.74C>G
  hgvsp: ENSP00000381470.1:p.Ser25Ter
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser25Ter
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-47902275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902275
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902275
    reference: chr 18
allele count: 7
allele frequency: 5.79287972326586e-5
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-209A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.75A>G
  hgvsp: ENST00000398452.2:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.75A>G
  hgvsp: ENST00000417656.2:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.75A>G
  hgvsp: ENST00000285116.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-116A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser25Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

18-47902287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902287
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902287
    reference: chr 18
allele count: 3
allele frequency: 2.490370567140391e-5
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.87T>C
  hgvsp: ENST00000398452.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.87T>C
  hgvsp: ENST00000417656.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.87T>C
  hgvsp: ENST00000285116.3:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-104T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-197T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8425
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
hgvs: c.87T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

18-47902289-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902289
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902289
    reference: chr 18
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+1G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+1G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+1G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+1G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+1G>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
hgvs: c.88+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

18-47902290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902290
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902290
    reference: chr 18
allele count: 2
allele frequency: 1.661957786272229e-5
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+2T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+2T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+2T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+2T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+2T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3755
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
hgvs: c.88+2T>C
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-47902291-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902291
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902291
    reference: chr 18
allele count: 2
allele frequency: 1.662344570782632e-5
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+3A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+3A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+3A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+3A>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+3A>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
hgvs: c.88+3A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-47902294-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902294
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902294
    reference: chr 18
allele count: 2
allele frequency: 1.664475107774763e-5
allele num: 120158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+6T>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+6T>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+6T>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+6T>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+6T>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: c.88+6T>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/18-47902295-AAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902295
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902291
    reference: chr 18
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+9_-196+12delAACA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+9_88+12delAACA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+9_-103+12delAACA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+9_88+12delAACA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+9_88+12delAACA
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.75e1
  variant carriers: 0
hgvs: c.88+9_88+12delAACA
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: AAAAC
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-47902297-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902297
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902295
    reference: chr 18
allele count: 2
allele frequency: 1.6654730776277e-5
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+11_88+12delCA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+11_-196+12delCA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+11_88+12delCA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+11_88+12delCA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+11_-103+12delCA
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: AAC
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-47902299-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902299
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902299
    reference: chr 18
allele count: 1
allele frequency: 8.330972891014212e-6
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+11C>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+11C>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+11C>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+11C>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+11C>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

18-47902309-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902309
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902309
    reference: chr 18
allele count: 2
allele frequency: 1.672184876759975e-5
allele num: 119604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+21T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+21T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+21T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+21T>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+21T>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

18-47902310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902310
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902310
    reference: chr 18
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+22G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+22G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+22G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+22G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+22G>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

18-47902311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902311
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902311
    reference: chr 18
allele count: 2
allele frequency: 1.672100994900092e-5
allele num: 119610
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+23A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+23A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+23A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+23A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+23A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-47902318-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902318
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902318
    reference: chr 18
allele count: 2
allele frequency: 1.676108745935436e-5
allele num: 119324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+30A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+30A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+30A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+30A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+30A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8402
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

18-47902320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902320
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902320
    reference: chr 18
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+32A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+32A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+32A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+32A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+32A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

18-47902324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902324
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902324
    reference: chr 18
allele count: 3
allele frequency: 2.519018590357197e-5
allele num: 119094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+36A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+36A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+36A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+36A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+36A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-47902334-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902334
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902334
    reference: chr 18
allele count: 1
allele frequency: 8.466253513495208e-6
allele num: 118116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+46T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+46T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+46T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+46T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+46T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

18-47902337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47902337
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47902337
    reference: chr 18
allele count: 85056
allele frequency: 7.236837627199401e-1
allele num: 117532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.88+49A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-196+49A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-103+49A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.88+49A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.88+49A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.25e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 3.75e1
  variant carriers: 5797
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 1.75e1
  variant carriers: 7250
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 4.25e1
  variant carriers: 3679
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.25e1
  variant carriers: 7793
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 1.25e1
  variant carriers: 4021
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.75e1
  variant carriers: 2200
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.25e1
  variant carriers: 9501
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.75e1
  variant carriers: 813
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 597
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 10024
  bin: 2.75e1
  variant carriers: 9126
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 7.5e0
  variant carriers: 1059
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 661
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 1263
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.75e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 6.25e1
  variant carriers: 2077
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 1113
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 5.25e1
  variant carriers: 1782
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.75e1
  variant carriers: 1129
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 328
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 375
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 773
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
  variant carriers: 1198
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 1445
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.75e1
  variant carriers: 1020
genotype quality: GenotypeQuality
  all individuals: 35641
  bin: 9.75e1
  variant carriers: 35048
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 8.25e1
  variant carriers: 2023
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 6.75e1
  variant carriers: 2120
num of homozygotes: 30889
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

18-47906451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906451
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906451
    reference: chr 18
allele count: 2
allele frequency: 1.824817518248175e-5
allele num: 109600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2048C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2048C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-45C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-45C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-45C>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6377
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

18-47906458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906458
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906458
    reference: chr 18
allele count: 1423
allele frequency: 1.297197761126001e-2
allele num: 109698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2041A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2041A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-38A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-38A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-38A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 7.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23243
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 9.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 10924
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 5.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28034
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7783
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 9.75e1
  variant carriers: 1330
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 7
num of homozygotes: 86
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

18-47906463-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906463
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906463
    reference: chr 18
allele count: 1
allele frequency: 9.105477855477855e-6
allele num: 109824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-33C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-33C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2036C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2036C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-33C>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

18-47906476-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906476
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906476
    reference: chr 18
allele count: 1
allele frequency: 9.07391612071938e-6
allele num: 110206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2023T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-20T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-20T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2023T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-20T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

18-47906481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906481
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906481
    reference: chr 18
allele count: 11
allele frequency: 9.944671464217264e-5
allele num: 110612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2018T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-15T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-15T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2018T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-15T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

18-47906486-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906486
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906486
    reference: chr 18
allele count: 1
allele frequency: 8.996365468350786e-6
allele num: 111156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-10T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-10T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-10T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2013T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2013T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

18-47906488-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906488
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906487
    reference: chr 18
allele count: 1
allele frequency: 8.964589870013446e-6
allele num: 111550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-7delA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2010delA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-7delA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2010delA
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-7delA
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29739
  bin: 6.25e1
  variant carriers: 0
hgvs: c.89-7delA
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: TA
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

18-47906491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906491
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906491
    reference: chr 18
allele count: 1
allele frequency: 8.912338241060925e-6
allele num: 112204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.89-5A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-2008A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.89-5A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-2008A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.89-5A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: c.89-5A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

18-47906504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906504
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906504
    reference: chr 18
allele count: 4
allele frequency: 3.469090404495941e-5
allele num: 115304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1995C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.97C>G
  hgvsp: ENSP00000397222.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.97C>G
  hgvsp: ENSP00000381470.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1995C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.97C>G
  hgvsp: ENSP00000285116.3:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro33Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

18-47906515-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906515
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906515
    reference: chr 18
allele count: 1
allele frequency: 8.527911855503062e-6
allele num: 117262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1984A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.108A>T
  hgvsp: ENSP00000381470.1:p.Lys36Asn
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1984A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.108A>T
  hgvsp: ENSP00000397222.1:p.Lys36Asn
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.108A>T
  hgvsp: ENSP00000285116.3:p.Lys36Asn
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys36Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

18-47906519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906519
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906519
    reference: chr 18
allele count: 1
allele frequency: 8.489973341483707e-6
allele num: 117786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.112G>A
  hgvsp: ENSP00000397222.1:p.Val38Ile
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.112G>A
  hgvsp: ENSP00000285116.3:p.Val38Ile
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.112G>A
  hgvsp: ENSP00000381470.1:p.Val38Ile
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1980G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1980G>A
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val38Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

18-47906521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906521
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906521
    reference: chr 18
allele count: 2
allele frequency: 1.69505890329689e-5
allele num: 117990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.114A>G
  hgvsp: ENST00000417656.2:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.114A>G
  hgvsp: ENST00000398452.2:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1978A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.114A>G
  hgvsp: ENST00000285116.3:c.114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1978A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val38Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

18-47906537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906537
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906537
    reference: chr 18
allele count: 8
allele frequency: 6.722576091158132e-5
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1962G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.130G>A
  hgvsp: ENSP00000397222.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.130G>A
  hgvsp: ENSP00000285116.3:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1962G>A
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.130G>A
  hgvsp: ENSP00000381470.1:p.Asp44Asn
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5457
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8342
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp44Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

18-47906556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906556
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906556
    reference: chr 18
allele count: 1
allele frequency: 8.368060785593547e-6
allele num: 119502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.149A>G
  hgvsp: ENSP00000381470.1:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.149A>G
  hgvsp: ENSP00000397222.1:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.149A>G
  hgvsp: ENSP00000285116.3:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1943A>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1943A>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn50Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

18-47906561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906561
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906561
    reference: chr 18
allele count: 2
allele frequency: 1.672520488375983e-5
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.154C>T
  hgvsp: ENSP00000285116.3:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1938C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.154C>T
  hgvsp: ENSP00000397222.1:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1938C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.154C>T
  hgvsp: ENSP00000381470.1:p.Leu52Phe
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu52Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

18-47906576-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906576
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906576
    reference: chr 18
allele count: 1
allele frequency: 8.354358468813179e-6
allele num: 119698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1923G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1923G>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.169G>T
  hgvsp: ENSP00000381470.1:p.Glu57Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.169G>T
  hgvsp: ENSP00000397222.1:p.Glu57Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.169G>T
  hgvsp: ENSP00000285116.3:p.Glu57Ter
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu57Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

18-47906579-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906579
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906579
    reference: chr 18
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1920T>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.172T>G
  hgvsp: ENSP00000397222.1:p.Leu58Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.172T>G
  hgvsp: ENSP00000285116.3:p.Leu58Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.172T>G
  hgvsp: ENSP00000381470.1:p.Leu58Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1920T>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34220
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu58Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

18-47906588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906588
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906588
    reference: chr 18
allele count: 1
allele frequency: 8.353521009105338e-6
allele num: 119710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.181C>T
  hgvsp: ENSP00000397222.1:p.Gln61Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1911C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1911C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.181C>T
  hgvsp: ENSP00000381470.1:p.Gln61Ter
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.181C>T
  hgvsp: ENSP00000285116.3:p.Gln61Ter
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln61Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

18-47906592-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906592
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906592
    reference: chr 18
allele count: 4
allele frequency: 3.341520057474145e-5
allele num: 119706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.185A>T
  hgvsp: ENSP00000381470.1:p.Tyr62Phe
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.185A>T
  hgvsp: ENSP00000285116.3:p.Tyr62Phe
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1907A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.185A>T
  hgvsp: ENSP00000397222.1:p.Tyr62Phe
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1907A>T
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5434
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr62Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-47906608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906608
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906608
    reference: chr 18
allele count: 51
allele frequency: 4.270355360551964e-4
allele num: 119428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.201C>T
  hgvsp: ENST00000417656.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.201C>T
  hgvsp: ENST00000398452.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1891C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1891C>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.201C>T
  hgvsp: ENST00000285116.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24536
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn67Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

18-47906614-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906614
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906614
    reference: chr 18
allele count: 1
allele frequency: 8.379701012267883e-6
allele num: 119336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1885A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1885A>T
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.207A>T
  hgvsp: ENST00000285116.3:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.207A>T
  hgvsp: ENST00000417656.2:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.207A>T
  hgvsp: ENST00000398452.2:c.207A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser69Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-47906615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906615
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906615
    reference: chr 18
allele count: 4
allele frequency: 3.351992759695639e-5
allele num: 119332
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.208C>G
  hgvsp: ENSP00000285116.3:p.Leu70Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.208C>G
  hgvsp: ENSP00000397222.1:p.Leu70Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.208C>G
  hgvsp: ENSP00000381470.1:p.Leu70Val
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1884C>G
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1884C>G
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu70Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

18-47906627-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47906627
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 47906627
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 118834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467559
  ensembl transcript: ENST00000494518
  gene symbol: SKA1
  hgvsc: ENST00000494518.1:c.-195-1872T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000467242
  ensembl transcript: ENST00000488454
  gene symbol: SKA1
  hgvsc: ENST00000488454.1:c.-102-1872T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000397222
  ensembl transcript: ENST00000417656
  gene symbol: SKA1
  hgvsc: ENST00000417656.2:c.213+7T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000381470
  ensembl transcript: ENST00000398452
  gene symbol: SKA1
  hgvsc: ENST00000398452.2:c.213+7T>C
  variant of: http://identifiers.org/hgnc/28109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154839
  ensembl protein: ENSP00000285116
  ensembl transcript: ENST00000285116
  gene symbol: SKA1
  hgvsc: ENST00000285116.3:c.213+7T>C
  variant of: http://identifiers.org/hgnc/28109
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
hgvs: c.213+7T>C
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.939447383891828e-4
allele num: 10206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.754e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

DP
type: SiteQuality
SIO_000300: 3.251959e6

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40917
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.931e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 3.249182e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.841e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40909
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4083
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518141794443601e-5
allele num: 65870
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: 6580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.225e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 3.247372e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.529e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.677e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
all individuals: 465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40904
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2515
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034993474764029e-5
allele num: 65898
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 3.245415e6

VQSLOD
type: SiteQuality
SIO_000300: -2.67e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.749e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40900
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
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: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.68e1

FS
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 3.24488e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
all individuals: 2225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40891
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2109
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.215842426821484e-4
allele num: 65798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 3.243283e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.949e0

GenotypeQuality
all individuals: 3677
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64872
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.778089887640449e-5
allele num: 11392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.082e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

FS
type: SiteQuality
SIO_000300: 2.291e0

QD
type: SiteQuality
SIO_000300: 5.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.708893e6

GenotypeQuality
all individuals: 2979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8430
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.597e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.727404e6

FS
type: SiteQuality
SIO_000300: 9.617000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: -8.169e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 23132
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 972
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 16
allele frequency: 1.4022787028922e-3
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.493019545273235e-3
allele num: 10028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 788
allele frequency: 1.209813615009058e-2
allele num: 65134
num of homozygotes: 9

South Asian
type: Population
allele count: 12
allele frequency: 7.781091946569835e-4
allele num: 15422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.018099547511312e-2
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 50
allele frequency: 7.578053955744165e-3
allele num: 6598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

DP
type: SiteQuality
SIO_000300: 1.766185e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 1666
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8413
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.061005846521167e-5
allele num: 65338
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 2.3642e1

QD
type: SiteQuality
SIO_000300: 1.745e1

VQSLOD
type: SiteQuality
SIO_000300: -9.731e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.774578e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

GenotypeQuality
all individuals: 1948
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.375810199339611e-4
allele num: 65416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 1.78573e6

FS
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
all individuals: 1574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8413
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054740957966764e-5
allele num: 65472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 2.078e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.794446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

GenotypeQuality
all individuals: 1949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8412
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

FS
type: SiteQuality
SIO_000300: 7.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

DP
type: SiteQuality
SIO_000300: 1.803132e6

VQSLOD
type: SiteQuality
SIO_000300: -2.831e0

QD
type: SiteQuality
SIO_000300: 7.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.801e1

GenotypeQuality
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6481
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 6.083e1

FS
type: SiteQuality
SIO_000300: 2.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.813925e6

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8415
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 829
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.278608873545583e-4
allele num: 15642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 2.303e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 1.813925e6

MQ
type: SiteQuality
SIO_000300: 6.083e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8419
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.937783028155149e-4
allele num: 10158
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.428e1

FS
type: SiteQuality
SIO_000300: 1.412e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 6.037e1

DP
type: SiteQuality
SIO_000300: 1.829484e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.837276e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
type: SiteQuality
SIO_000300: -8.649e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

FS
type: SiteQuality
SIO_000300: 8.590999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

GenotypeQuality
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bin: 3.25e1
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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015135982632817e-5
allele num: 66332
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16060
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
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DP
type: SiteQuality
SIO_000300: 1.84171e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
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bin: 2.25e1
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

European (Finnish)
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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: 8632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.847611e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

FS
type: SiteQuality
SIO_000300: 3.224e0

MQ
type: SiteQuality
SIO_000300: 5.789e1

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: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 1.849047e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.379e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

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: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508430765531544e-5
allele num: 66542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.851052e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 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: 2
allele frequency: 1.224739742804654e-4
allele num: 16330
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
SIO_000300: 2.561e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.125e1

DP
type: SiteQuality
SIO_000300: 1.852785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.121449559255632e-5
allele num: 16336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.166e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.672e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
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East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.85393e6

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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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

South Asian
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allele count: 6
allele frequency: 3.665241295051924e-4
allele num: 16370
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
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Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.854409e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

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: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
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allele frequency: 3.468208092485549e-4
allele num: 8650
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.855627e6

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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FS
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

FS
type: SiteQuality
SIO_000300: 1.592e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.853726e6

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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.852408e6

GenotypeQuality
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GenotypeQuality
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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
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African
type: Population
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Other
type: Population
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allele num: 904
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
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
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allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.012686769082765e-5
allele num: 66526
num of homozygotes: 0

Latino
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allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

East Asian
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allele num: 8630
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South Asian
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allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.012048192771084e-5
allele num: 66400
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Other
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East Asian
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African
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South Asian
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allele frequency: 0.0e0
allele num: 16172
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.839279e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.506614035616356e-5
allele num: 66374
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Latino
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Other
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allele num: 900
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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QD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73550850399167e-4
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.834209e6

VQSLOD
type: SiteQuality
SIO_000300: -7.009e0

FS
type: SiteQuality
SIO_000300: 2.817e0

QD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -3.24e0

MQ
type: SiteQuality
SIO_000300: 5.744e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.033e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 1.828603e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.621e0

VQSLOD
type: SiteQuality
SIO_000300: -4.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.864e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.828302e6

FS
type: SiteQuality
SIO_000300: 6.903e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.289e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018594542381067e-5
allele num: 66256
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.823448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.822362e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.841e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
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bin: 7.25e1
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: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15896
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.343566908835247e-4
allele num: 8534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: -2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

FS
type: SiteQuality
SIO_000300: 1.2668e1

DP
type: SiteQuality
SIO_000300: 1.793216e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514830187535977e-5
allele num: 66014
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.79321e6

QD
type: SiteQuality
SIO_000300: 2.658e1

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.345215759849906e-4
allele num: 8528
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

DP
type: SiteQuality
SIO_000300: 1.789606e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15800
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African
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allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.861e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

Latino
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Other
type: Population
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African
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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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East Asian
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South Asian
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allele num: 15734
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6584
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65362
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Latino
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.6451e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.601e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.628e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

DP
type: SiteQuality
SIO_000300: 1.735746e6

GenotypeQuality
all individuals: 320
bin: 1.75e1
variant carriers: 241

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 106

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 2055

GenotypeQuality
all individuals: 1974
bin: 9.25e1
variant carriers: 1863

GenotypeQuality
all individuals: 924
bin: 4.25e1
variant carriers: 730

European (Finnish)
type: Population
allele count: 4311
allele frequency: 6.581679389312977e-1
allele num: 6550
num of homozygotes: 1413

East Asian
type: Population
allele count: 6724
allele frequency: 8.066218809980806e-1
allele num: 8336
num of homozygotes: 2705

European (Non-Finnish)
type: Population
allele count: 45448
allele frequency: 7.001910396253158e-1
allele num: 64908
num of homozygotes: 15823

Latino
type: Population
allele count: 9798
allele frequency: 8.572178477690289e-1
allele num: 11430
num of homozygotes: 4213

African
type: Population
allele count: 7604
allele frequency: 7.633005420598273e-1
allele num: 9962
num of homozygotes: 2886

South Asian
type: Population
allele count: 10541
allele frequency: 6.815595499806026e-1
allele num: 15466
num of homozygotes: 3619

Other
type: Population
allele count: 630
allele frequency: 7.159090909090909e-1
allele num: 880
num of homozygotes: 230

DP
type: SiteQuality
SIO_000300: 1.85734e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

QD
type: SiteQuality
SIO_000300: 2.897e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

GenotypeQuality
all individuals: 3491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27818
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9844
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.171381453761258e-5
allele num: 63064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.777e0

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.758611e6

FS
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
all individuals: 570
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2314
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2601
bin: 7.25e1
variant carriers: 2

Latino
type: Population
allele count: 90
allele frequency: 7.841087297438577e-3
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.133501259445844e-2
allele num: 794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

African
type: Population
allele count: 1201
allele frequency: 1.290287924366137e-1
allele num: 9308
num of homozygotes: 85

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: 119
allele frequency: 1.88607474561765e-3
allele num: 63094
num of homozygotes: 1

South Asian
type: Population
allele count: 4
allele frequency: 4.04040404040404e-4
allele num: 9900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.64e-2

DP
type: SiteQuality
SIO_000300: 1.778925e6

FS
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

QD
type: SiteQuality
SIO_000300: 1.634e1

GenotypeQuality
all individuals: 3525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5472
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
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: 9304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583882412569691e-5
allele num: 63136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.721496e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 1023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5471
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.97e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
SIO_000300: 1.728525e6

FS
type: SiteQuality
SIO_000300: 1.258e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5474
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2673
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.288357929257437e-3
allele num: 8538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.732736e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 29490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.072041166380789e-4
allele num: 9328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 1.807e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.737595e6

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5463
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2373
bin: 8.25e1
variant carriers: 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: 9346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 1.740965e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

FS
type: SiteQuality
SIO_000300: 4.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.485e1

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8028
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566956031213764e-5
allele num: 63818
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 7.051e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.747917e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.176270767710456e-5
allele num: 64764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
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: 13400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

FS
type: SiteQuality
SIO_000300: 3.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.776211e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.044277360066834e-4
allele num: 9576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.617e0

DP
type: SiteQuality
SIO_000300: 1.792966e6

FS
type: SiteQuality
SIO_000300: 2.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8306
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
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: 11554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527323823196994e-5
allele num: 65474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 9.73e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.79859e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.082465639316951e-4
allele num: 9604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 1.800234e6

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.263e0

GenotypeQuality
all individuals: 2782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65846
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: 8
allele frequency: 5.06906602458497e-4
allele num: 15782
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.18e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 1.810533e6

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

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

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

GenotypeQuality
all individuals: 3582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5447
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.208866261020738e-5
allele num: 16106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65968
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.814808e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

FS
type: SiteQuality
SIO_000300: 3.097e0

VQSLOD
type: SiteQuality
SIO_000300: -2.862e-1

GenotypeQuality
all individuals: 1324
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5443
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2394
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66004
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: 16134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.815714e6

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 2.007e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

GenotypeQuality
all individuals: 34217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

QD
type: SiteQuality
SIO_000300: 1.024e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.538e0

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

FS
type: SiteQuality
SIO_000300: 2.768e0

DP
type: SiteQuality
SIO_000300: 1.815457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1323
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66028
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.815273e6

MQRankSum
type: SiteQuality
SIO_000300: -1.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 6.044e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 2.928e1

VQSLOD
type: SiteQuality
SIO_000300: -2.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

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

GenotypeQuality
all individuals: 2374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5435
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: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.585e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.813649e6

FS
type: SiteQuality
SIO_000300: 2.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

GenotypeQuality
all individuals: 3548
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515564851019975e-5
allele num: 65982
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
SIO_000300: 1.811904e6

QD
type: SiteQuality
SIO_000300: 1.507e1

FS
type: SiteQuality
SIO_000300: 3.173e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3456
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231072263941894e-4
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.095842719639566e-4
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.347826086956522e-4
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 5.925250683682771e-4
allele num: 65820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 1.329e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e0

DP
type: SiteQuality
SIO_000300: 1.800896e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 3434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 1302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5386
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.793819e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3429
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.460327223520728e-4
allele num: 16258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

FS
type: SiteQuality
SIO_000300: 2.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.793518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.29e-1