15-49447781-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447781
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447781
    reference: chr 15
allele count: 3
allele frequency: 2.479584752206831e-5
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.21G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-6G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-6G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.25e1
  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: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

15-49447782-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447782
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447782
    reference: chr 15
allele count: 5
allele frequency: 4.133939644481191e-5
allele num: 120950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-7G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-7G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-7G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.20G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-7G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-7G>C
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

15-49447783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447783
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447783
    reference: chr 15
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-8C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-8C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.19C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
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: 50
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

15-49447784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447784
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447784
    reference: chr 15
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-9C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.18C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-9C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

15-49447786-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447786
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
allele count: 12
allele frequency: 9.923260121725324e-5
allele num: 120928
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-12dupC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-12dupC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-12dupC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-12dupC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.15dupC
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30285
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

15-49447786-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447786
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447785
    reference: chr 15
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-12delC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-12delC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-12delC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-12delC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-12delC
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.15delC
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: AG
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

15-49447787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
allele count: 5
allele frequency: 4.135512472705618e-5
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-12C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.15C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-12C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

15-49447787-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-12C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.15C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-12C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-12C>G
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

15-49447787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447787
    reference: chr 15
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-12C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-12C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000452944
  ensembl transcript: ENST00000558843
  gene symbol: COPS2
  hgvsc: ENST00000558843.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.15C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-12C>A
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

15-49447788-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
allele count: 74
allele frequency: 6.120659707862567e-4
allele num: 120902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.14C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-13C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-13C>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-13C>G
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22319
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

15-49447788-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
allele count: 19
allele frequency: 1.571520735802551e-4
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-13C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-13C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-13C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.14C>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-13C>A
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

15-49447788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447788
    reference: chr 15
allele count: 3
allele frequency: 2.481348530214554e-5
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-13C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.14C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-13C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

15-49447791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447791
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447791
    reference: chr 15
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-16C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-16C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.11C>T
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9996
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

15-49447793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447793
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447793
    reference: chr 15
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-18C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.9C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-18C>T
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-18C>T
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 544
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genotype quality: GenotypeQuality
  all individuals: 9493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

15-49447800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447800
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447800
    reference: chr 15
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000453412
  ensembl transcript: ENST00000561248
  gene symbol: COPS2
  hgvsc: ENST00000561248.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166200
  ensembl transcript: ENST00000558545
  gene symbol: COPS2
  hgvsc: ENST00000558545.1:n.2A>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-25A>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-25A>G
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000443664
  ensembl transcript: ENST00000542928
  gene symbol: COPS2
  hgvsc: ENST00000542928.1:c.-25A>G
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 703
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genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1199
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 700
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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: 1440
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

15-49447811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447811
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447811
    reference: chr 15
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-36G>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-36G>A
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
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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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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11476
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

15-49447813-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447813
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447813
    reference: chr 15
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-38G>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-38G>C
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10258
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-49447814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447814
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447814
    reference: chr 15
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-39G>A
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-39G>A
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19639
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6508
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

15-49447821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447821
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447821
    reference: chr 15
allele count: 1962
allele frequency: 1.636800480528582e-2
allele num: 119868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-46T>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-46T>C
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 2.25e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 2.75e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 1.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 4.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10287
  bin: 3.25e1
  variant carriers: 323
genotype quality: GenotypeQuality
  all individuals: 7924
  bin: 9.75e1
  variant carriers: 1898
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13817
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
  all individuals: 961
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 24
population: Latino
  type: Population
  allele count: 88
  allele frequency: 7.719298245614035e-3
  allele num: 11400
  num of homozygotes: 1
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

15-49447822-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49447822
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49447822
    reference: chr 15
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000373553
  ensembl transcript: ENST00000388901
  gene symbol: COPS2
  hgvsc: ENST00000388901.5:c.-47T>C
  variant of: http://identifiers.org/hgnc/30747
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166200
  ensembl protein: ENSP00000299259
  ensembl transcript: ENST00000299259
  gene symbol: COPS2
  hgvsc: ENST00000299259.6:c.-47T>C
  variant of: http://identifiers.org/hgnc/30747
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 246
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12721
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2371
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.830908375933936e-5
  allele num: 10172
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/15-49448145-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448145
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448145
    reference: chr 15
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.148A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-49A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-49A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-49A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-49A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-49A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-212A>C
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

15-49448154-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448154
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448154
    reference: chr 15
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-40C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.157C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-203C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

15-49448161-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448161
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448161
    reference: chr 15
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-196G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-33G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-33G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.164G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-33G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-33G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-33G>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/15-49448164-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448164
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448164
    reference: chr 15
allele count: 4
allele frequency: 3.298697014679201e-5
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-30C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-193C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.167C>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-49448170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448170
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448170
    reference: chr 15
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-187G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.173G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

15-49448170-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448170
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448170
    reference: chr 15
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-24G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.173G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-24G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-187G>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

15-49448177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448177
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448177
    reference: chr 15
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-180G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.180G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

15-49448187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448187
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448187
    reference: chr 15
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.190G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-7G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-170G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/15-49448189-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448189
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448189
    reference: chr 15
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-5C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-168C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.192C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

15-49448190-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448190
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448190
    reference: chr 15
allele count: 11
allele frequency: 9.066033692677942e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.193T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-167T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.-4T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.-4T>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

15-49448194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448194
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448194
    reference: chr 15
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.1A>G
  hgvsp: ENSP00000453849.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.197A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.1A>G
  hgvsp: ENSP00000453241.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.1A>G
  hgvsp: ENSP00000453457.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.1A>G
  hgvsp: ENSP00000316632.3:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-163A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.1A>G
  hgvsp: ENSP00000453193.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

15-49448202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448202
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448202
    reference: chr 15
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.205C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.9C>T
  hgvsp: ENST00000561074.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.9C>T
  hgvsp: ENST00000559963.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.9C>T
  hgvsp: ENST00000559883.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-155C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.9C>T
  hgvsp: ENST00000558775.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.9C>T
  hgvsp: ENST00000327171.3:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val3Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

15-49448206-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448206
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448206
    reference: chr 15
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.13T>A
  hgvsp: ENSP00000453849.1:p.Tyr5Asn
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.13T>A
  hgvsp: ENSP00000453457.1:p.Tyr5Asn
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.13T>A
  hgvsp: ENSP00000453193.1:p.Tyr5Asn
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.13T>A
  hgvsp: ENSP00000316632.3:p.Tyr5Asn
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-151T>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.13T>A
  hgvsp: ENSP00000453241.1:p.Tyr5Asn
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.209T>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr5Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

15-49448216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448216
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448216
    reference: chr 15
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+3A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+3A>G
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.20+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

15-49448225-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448225
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448225
    reference: chr 15
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+12G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+12G>C
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

15-49448237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448237
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448237
    reference: chr 15
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+24C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+24C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

15-49448243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448243
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448243
    reference: chr 15
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+30C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+30C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

15-49448248-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448248
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448248
    reference: chr 15
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+35A>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+35A>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

15-49448251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49448251
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49448251
    reference: chr 15
allele count: 4
allele frequency: 3.296793867963405e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.20+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.20+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.20+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-144+38C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+38C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43339
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

15-49454018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49454018
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49454018
    reference: chr 15
allele count: 75
allele frequency: 5.208333333333334e-1
allele num: 144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+2853C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+5805C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+5805C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.102C>T
  hgvsp: ENST00000558775.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+5805C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.78C>T
  hgvsp: ENST00000559883.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.102C>T
  hgvsp: ENST00000559963.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 656
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 2.5e0
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 6.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 16
hgvs: p.Ser26Ser
num of homozygotes: 13
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

15-49454028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49454028
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49454028
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 46
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+2863G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.112G>C
  hgvsp: ENSP00000453849.1:p.Ala38Pro
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+5815G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.88G>C
  hgvsp: ENSP00000453193.1:p.Ala30Pro
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.112G>C
  hgvsp: ENSP00000453457.1:p.Ala38Pro
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+5815G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+5815G>C
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala30Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/15-49454039-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49454039
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49454039
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 30
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+5826C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+5826C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+5826C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.123C>A
  hgvsp: ENST00000559963.1:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.99C>A
  hgvsp: ENST00000559883.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.123C>A
  hgvsp: ENST00000558775.1:c.123C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+2874C>A
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser33Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

15-49454046-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49454046
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49454046
    reference: chr 15
allele count: 2
allele frequency: 1.0e-1
allele num: 20
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+5833G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+2881G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.106G>C
  hgvsp: ENSP00000453193.1:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+5833G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+5833G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.130G>C
  hgvsp: ENSP00000453457.1:p.Ala44Pro
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.130G>C
  hgvsp: ENSP00000453849.1:p.Ala44Pro
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala44Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

15-49461219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49461219
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49461219
    reference: chr 15
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+7161C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+7161C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+13006C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+10054C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+13006C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+7161C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+13006C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

15-49461248-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49461248
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49461248
    reference: chr 15
allele count: 1
allele frequency: 5.0e-1
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+13035C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+7190C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+13035C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+10083C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+13035C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+7190C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+7190C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

15-49462470-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462470
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462470
    reference: chr 15
allele count: 1
allele frequency: 3.740555098376599e-5
allele num: 26734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-105G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14257G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8412G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-313G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-105G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8412G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.25G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14257G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14257G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11305G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-535G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8412G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-105G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

15-49462470-GCTTTGCTTAGACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462470
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462457
    reference: chr 15
allele count: 1
allele frequency: 3.740555098376599e-5
allele num: 26734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: GCTTTGCTTAGACA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

15-49462480-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462480
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462480
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 26874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8422G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.-40G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14267G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-525G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-95G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14267G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-303G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.35G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8422G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.-40G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14267G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-242G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-95G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11315G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8422G>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

15-49462497-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462497
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462497
    reference: chr 15
allele count: 3
allele frequency: 1.059696220416814e-4
allele num: 28310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8439G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.-23G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8439G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14284G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14284G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-78G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-78G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8439G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-508G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.-23G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-286G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-78G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-225G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11332G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14284G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.52G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-78G>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/15-49462502-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462502
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462502
    reference: chr 15
allele count: 1
allele frequency: 3.44044588178628e-5
allele num: 29066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-281A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-220A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-503A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14289A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-73A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14289A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.57A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8444A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14289A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8444A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11337A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8444A>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

15-49462510-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462510
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462510
    reference: chr 15
allele count: 3
allele frequency: 9.946949602122016e-5
allele num: 30160
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8452C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-65C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-212C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8452C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.65C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11345C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-65C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-65C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-495C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14297C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8452C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14297C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14297C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-273C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-65C>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-65C>G
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-49462521-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462521
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462521
    reference: chr 15
allele count: 2
allele frequency: 6.25312656328164e-5
allele num: 31984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8463T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.2T>C
  hgvsp: ENSP00000453129.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8463T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-484T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11356T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.76T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14308T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-201T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.2T>C
  hgvsp: ENSP00000453844.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-54T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8463T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-54T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-262T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14308T>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14308T>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

15-49462524-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462524
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462523
    reference: chr 15
allele count: 1
allele frequency: 3.034348828741352e-5
allele num: 32956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-480delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-50delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14312delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-50delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-197delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-50delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14312delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8467delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14312delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8467delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.6delT
  hgvsp: ENSP00000453844.1:p.Thr3GlnfsTer18
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-50delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11360delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.6delT
  hgvsp: ENSP00000453129.1:p.Thr3GlnfsTer18
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-258delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-50delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.80delT
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8467delT
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr3GlnfsTer18
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: CT
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/15-49462527-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462527
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462527
    reference: chr 15
allele count: 50
allele frequency: 1.617704154264268e-3
allele num: 30908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-256C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8469C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-478C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-195C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14314C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.82C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.8C>A
  hgvsp: ENSP00000453844.1:p.Thr3Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11362C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-48C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.8C>A
  hgvsp: ENSP00000453129.1:p.Thr3Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8469C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14314C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14314C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-48C>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8469C>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr3Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

15-49462528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462528
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462528
    reference: chr 15
allele count: 1
allele frequency: 2.976190476190476e-5
allele num: 33600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14315A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.83A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.9A>G
  hgvsp: ENST00000559208.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14315A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-255A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14315A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-47A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-477A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.9A>G
  hgvsp: ENST00000560031.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-47A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8470A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-194A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8470A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8470A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11363A>G
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr3Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-49462529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462529
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462529
    reference: chr 15
allele count: 21
allele frequency: 6.301764494058336e-4
allele num: 33324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.10G>A
  hgvsp: ENSP00000453844.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-254G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14316G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11364G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.10G>A
  hgvsp: ENSP00000453129.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.84G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-46G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8471G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-193G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-476G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14316G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8471G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8471G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14316G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu4Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-49462532-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462532
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462532
    reference: chr 15
allele count: 3
allele frequency: 8.831321754489255e-5
allele num: 33970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-473A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-43A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14319A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14319A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-190A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14319A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.13A>G
  hgvsp: ENSP00000453844.1:p.Ser5Gly
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-251A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8474A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.13A>G
  hgvsp: ENSP00000453129.1:p.Ser5Gly
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-43A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.87A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-43A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8474A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8474A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11367A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-43A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-43A>G
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

15-49462533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462533
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462533
    reference: chr 15
allele count: 1
allele frequency: 2.942388042134997e-5
allele num: 33986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-189G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8475G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-42G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.14G>C
  hgvsp: ENSP00000453844.1:p.Ser5Thr
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.14G>C
  hgvsp: ENSP00000453129.1:p.Ser5Thr
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-472G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11368G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-42G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.88G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8475G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-250G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8475G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14320G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14320G>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14320G>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34868
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

15-49462538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462538
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462538
    reference: chr 15
allele count: 1
allele frequency: 2.863852454321553e-5
allele num: 34918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-37G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14325G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.19G>A
  hgvsp: ENSP00000453129.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-184G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.93G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8480G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.19G>A
  hgvsp: ENSP00000453844.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14325G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14325G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-467G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11373G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-245G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8480G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8480G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala7Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

15-49462543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462543
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462543
    reference: chr 15
allele count: 4
allele frequency: 1.120322652924042e-4
allele num: 35704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8485G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14330G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14330G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-462G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.24G>A
  hgvsp: ENST00000560031.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-240G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8485G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-32G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.98G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.24G>A
  hgvsp: ENST00000559208.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8485G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14330G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11378G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

15-49462544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462544
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462544
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 35782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8486C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.25C>T
  hgvsp: ENSP00000453844.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11379C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14331C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-178C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.25C>T
  hgvsp: ENSP00000453129.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-31C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-239C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14331C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8486C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.99C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-461C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8486C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14331C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg9Cys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

15-49462547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462547
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462547
    reference: chr 15
allele count: 1
allele frequency: 2.773155851358846e-5
allele num: 36060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14334C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14334C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-236C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-458C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.28C>T
  hgvsp: ENSP00000453844.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14334C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.28C>T
  hgvsp: ENSP00000453129.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11382C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.102C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-175C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8489C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8489C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8489C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg10Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

15-49462550-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462550
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462550
    reference: chr 15
allele count: 3
allele frequency: 8.190455389319647e-5
allele num: 36628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-25G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14337G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-25G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.31G>T
  hgvsp: ENSP00000453129.1:p.Val11Phe
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.31G>T
  hgvsp: ENSP00000453844.1:p.Val11Phe
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-172G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-25G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.105G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-25G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8492G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8492G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11385G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-233G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-455G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-25G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14337G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8492G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14337G>T
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val11Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

15-49462554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462554
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462554
    reference: chr 15
allele count: 4
allele frequency: 1.087665869045029e-4
allele num: 36776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8496A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-168A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.35A>G
  hgvsp: ENSP00000453844.1:p.Gln12Arg
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11389A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8496A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-229A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-451A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14341A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.35A>G
  hgvsp: ENSP00000453129.1:p.Gln12Arg
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8496A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14341A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14341A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.109A>G
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln12Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

15-49462556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462556
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462556
    reference: chr 15
allele count: 1
allele frequency: 2.699929801825153e-5
allele num: 37038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11391G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-166G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14343G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.37G>T
  hgvsp: ENSP00000453129.1:p.Val13Leu
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-20+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.37G>T
  hgvsp: ENSP00000453844.1:p.Val13Leu
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-20+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-450+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-20+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8498G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8498G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-20+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-20+1G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14343G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-227G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14343G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.111G>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8498G>T
  variant of: http://identifiers.org/hgnc/4119
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-20+1G>T
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

15-49462568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462568
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462568
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 36666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.49C>T
  hgvsp: ENSP00000453129.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-154C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8510C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-215C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-20+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-20+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8510C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14355C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8510C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-20+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-20+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.49C>T
  hgvsp: ENSP00000453844.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14355C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-20+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14355C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-450+13C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.123C>T
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11403C>T
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro17Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-49462571-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462571
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462571
    reference: chr 15
allele count: 1
allele frequency: 2.751637224148368e-5
allele num: 36342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-450+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14358A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-20+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.52A>C
  hgvsp: ENST00000560031.1:c.52A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14358A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.126A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-20+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-151A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.52A>C
  hgvsp: ENST00000559208.1:c.52A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14358A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8513A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-20+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8513A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-20+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-212A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-20+16A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8513A>C
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11406A>C
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.52A>C
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-49462571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462571
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462571
    reference: chr 15
allele count: 2
allele frequency: 5.503274448296736e-5
allele num: 36342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-151A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-20+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-450+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.126A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-20+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.52A>G
  hgvsp: ENSP00000453129.1:p.Arg18Gly
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-20+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8513A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14358A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14358A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-20+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.52A>G
  hgvsp: ENSP00000453844.1:p.Arg18Gly
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8513A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8513A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-212A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14358A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-20+16A>G
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11406A>G
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

15-49462572-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49462572
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 49462572
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 36384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453909
  ensembl transcript: ENST00000560119
  gene symbol: GALK2
  hgvsc: ENST00000560119.1:c.-20+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559040
  gene symbol: GALK2
  hgvsc: ENST00000559040.1:n.216+14359G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453241
  ensembl transcript: ENST00000561074
  gene symbol: GALK2
  hgvsc: ENST00000561074.1:c.20+14359G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453129
  ensembl transcript: ENST00000560031
  gene symbol: GALK2
  hgvsc: ENST00000560031.1:c.53G>A
  hgvsp: ENSP00000453129.1:p.Arg18Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453849
  ensembl transcript: ENST00000558775
  gene symbol: GALK2
  hgvsc: ENST00000558775.1:c.142+8514G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453961
  ensembl transcript: ENST00000560654
  gene symbol: GALK2
  hgvsc: ENST00000560654.1:c.-20+11407G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453652
  ensembl transcript: ENST00000559423
  gene symbol: GALK2
  hgvsc: ENST00000559423.1:c.-20+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000379766
  ensembl transcript: ENST00000396509
  gene symbol: GALK2
  hgvsc: ENST00000396509.2:c.-20+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452614
  ensembl transcript: ENST00000560138
  gene symbol: GALK2
  hgvsc: ENST00000560138.1:c.-20+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000440312
  ensembl transcript: ENST00000544523
  gene symbol: GALK2
  hgvsc: ENST00000544523.1:c.-150G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000452679
  ensembl transcript: ENST00000558956
  gene symbol: GALK2
  hgvsc: ENST00000558956.1:c.-20+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000454123
  ensembl transcript: ENST00000558145
  gene symbol: GALK2
  hgvsc: ENST00000558145.1:c.-211G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000443220
  ensembl transcript: ENST00000543495
  gene symbol: GALK2
  hgvsc: ENST00000543495.1:c.-450+17G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453844
  ensembl transcript: ENST00000559208
  gene symbol: GALK2
  hgvsc: ENST00000559208.1:c.53G>A
  hgvsp: ENSP00000453844.1:p.Arg18Lys
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000156958
  ensembl transcript: ENST00000559095
  gene symbol: GALK2
  hgvsc: ENST00000559095.1:n.127G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000316632
  ensembl transcript: ENST00000327171
  gene symbol: GALK2
  hgvsc: ENST00000327171.3:c.20+14359G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453457
  ensembl transcript: ENST00000559963
  gene symbol: GALK2
  hgvsc: ENST00000559963.1:c.142+8514G>A
  variant of: http://identifiers.org/hgnc/4119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156958
  ensembl protein: ENSP00000453193
  ensembl transcript: ENST00000559883
  gene symbol: GALK2
  hgvsc: ENST00000559883.1:c.118+8514G>A
  variant of: http://identifiers.org/hgnc/4119
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg18Lys
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.03794e6

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 3.829e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.515858461353456e-5
allele num: 66526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 2.03706e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.773e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10042
bin: 6.75e1
variant carriers: 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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.842e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

FS
type: SiteQuality
SIO_000300: 6.284e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.034056e6

MQ
type: SiteQuality
SIO_000300: 5.86e1

QD
type: SiteQuality
SIO_000300: 2.686e1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6462
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2535
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 4.658e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.032008e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

QD
type: SiteQuality
SIO_000300: 2.46e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.603714632876237e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
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: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.353057910878586e-4
allele num: 66516
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 2.031757e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

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

GenotypeQuality
all individuals: 1063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.031757e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 1.453e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeQuality
all individuals: 6458
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007699711260828e-5
allele num: 66496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.031905e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30351
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.031905e6

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

FS
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.031905e6

GenotypeQuality
all individuals: 30221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 64
allele frequency: 5.552663543293423e-3
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.263547938860583e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.030892e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

GenotypeQuality
all individuals: 9989
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 1448
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-5
allele num: 66500
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: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.73354422679158e-4
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

FS
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 2.030892e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 2521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6499
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216693028348948e-4
allele num: 16438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
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: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 2.030892e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
all individuals: 3978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.289e0

FS
type: SiteQuality
SIO_000300: 2.126e0

QD
type: SiteQuality
SIO_000300: 9.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.024006e6

VQSLOD
type: SiteQuality
SIO_000300: -1.107e0

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

GenotypeQuality
all individuals: 170
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3916
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6397
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

DP
type: SiteQuality
SIO_000300: 2.008553e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 6.076e0

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
all individuals: 28362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2979
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.993627e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 2.414e0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.913804e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.899608e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 3.163e0

MQRankSum
type: SiteQuality
SIO_000300: -1.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.091e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.608e1

DP
type: SiteQuality
SIO_000300: 1.881543e6

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 2.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

South Asian
type: Population
allele count: 49
allele frequency: 3.007611097471152e-3
allele num: 16292
num of homozygotes: 3

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

Other
type: Population
allele count: 17
allele frequency: 1.893095768374165e-2
allele num: 898
num of homozygotes: 1

African
type: Population
allele count: 494
allele frequency: 4.848841774636828e-2
allele num: 10188
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 1229
allele frequency: 1.861500711883917e-2
allele num: 66022
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 85
allele frequency: 1.310514955288313e-2
allele num: 6486
num of homozygotes: 2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.41e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.822958e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66008
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.089e0

VQSLOD
type: SiteQuality
SIO_000300: -5.91e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.81e-1

DP
type: SiteQuality
SIO_000300: 1.811775e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.548e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2931
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43359
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

FS
type: SiteQuality
SIO_000300: 3.198e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.948e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 3.215886e6

QD
type: SiteQuality
SIO_000300: 1.74e1

GenotypeQuality
all individuals: 2216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43352
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 2.0e-4

ReadPosRankSum
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SIO_000300: 1.24e0

VQSLOD
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DP
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SIO_000300: 3.219359e6

BaseQRankSum
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SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

FS
type: SiteQuality
SIO_000300: 1.031e0

QD
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SIO_000300: 1.088e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.825261620832319e-4
allele num: 16436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -5.610000000000001e-1

BaseQRankSum
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SIO_000300: -2.262e0

MQRankSum
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SIO_000300: 1.02e0

ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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SIO_000300: 2.332e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

DP
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.999340072592015e-5
allele num: 66674
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16426
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 3.223333e6

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
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SIO_000300: -6.48e-1

FS
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SIO_000300: 4.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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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: 908
num of homozygotes: 0

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

MQ
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SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

FS
type: SiteQuality
SIO_000300: 4.238e0

ClippingRankSum
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SIO_000300: -3.28e-1

BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 3.224545e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.53e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

FS
type: SiteQuality
SIO_000300: 4.238e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
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SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
type: SiteQuality
SIO_000300: 3.224545e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.225466e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

QD
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SIO_000300: 1.074e1

MQRankSum
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SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.789e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

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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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
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allele num: 11578
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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Other
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num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 1.511944360447536e-3
allele num: 6614
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

South Asian
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East Asian
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Other
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele num: 8654
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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SIO_000300: 6.105e0

ClippingRankSum
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SIO_000300: 2.98e-1

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.96e1

DP
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SIO_000300: 3.225961e6

QD
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SIO_000300: 1.594e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.976e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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QD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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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
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European (Non-Finnish)
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allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

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

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

Latino
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South Asian
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allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 66706
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
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SIO_000300: 2.963e0

MQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 48

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 145

East Asian
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allele count: 21
allele frequency: 6.176470588235294e-1
allele num: 34
num of homozygotes: 6

African
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allele count: 2
allele frequency: 5.0e-1
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South Asian
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allele count: 28
allele frequency: 4.666666666666667e-1
allele num: 60
num of homozygotes: 3

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

Other
type: Population
allele count: 2
allele frequency: 5.0e-1
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
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allele count: 22
allele frequency: 5.238095238095238e-1
allele num: 42
num of homozygotes: 4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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QD
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 2.0887e4

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 1.6175e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.810000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.502e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.959e1

DP
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SIO_000300: 1.4787e4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.021e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.666666666666667e-1
allele num: 6
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.627e1

FS
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 1.4051e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

DP
type: SiteQuality
SIO_000300: 4.799e3

GenotypeQuality
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bin: 2.25e1
variant carriers: 10

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

QD
type: SiteQuality
SIO_000300: 1.632e1

DP
type: SiteQuality
SIO_000300: 5.273e3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.14e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.609191903819814e-5
allele num: 13142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.996e1

FS
type: SiteQuality
SIO_000300: 1.446e0

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

DP
type: SiteQuality
SIO_000300: 6.02806e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 5.21e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1350
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13142
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
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allele count: 1
allele frequency: 3.636363636363636e-4
allele num: 2750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.996e1

InbreedingCoeff
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SIO_000300: 3.25e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.446e0

DP
type: SiteQuality
SIO_000300: 6.02806e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 5.21e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 13224
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 1366
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: 8164
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.55e-2

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 3

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1193
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 774
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1282
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 609
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variant carriers: 1

GenotypeQuality
all individuals: 471
bin: 9.25e1
variant carriers: 2

African
type: Population
allele count: 11
allele frequency: 3.900709219858156e-3
allele num: 2820
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.517887563884157e-4
allele num: 1174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 2.352791555385985e-3
allele num: 15726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.403846153846154e-3
allele num: 416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.16e2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.438e0

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 1.51966e2

DP
type: SiteQuality
SIO_000300: 7.52316e5

GenotypeDepth
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1349
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4130
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34760
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4003
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 111
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variant carriers: 0

GenotypeDepth
all individuals: 581
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variant carriers: 0

GenotypeDepth
all individuals: 2603
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variant carriers: 0

GenotypeDepth
all individuals: 8418
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variant carriers: 0

GenotypeDepth
all individuals: 147
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variant carriers: 0

GenotypeDepth
all individuals: 715
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variant carriers: 0

GenotypeDepth
all individuals: 177
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 87
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variant carriers: 0

GenotypeDepth
all individuals: 97
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variant carriers: 0

GenotypeDepth
all individuals: 2213
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variant carriers: 0

GenotypeQuality
all individuals: 8188
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variant carriers: 0

GenotypeQuality
all individuals: 1084
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variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 5443
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 1409
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1236
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variant carriers: 0

GenotypeQuality
all individuals: 2145
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variant carriers: 1

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 2040
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 33395
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variant carriers: 0

GenotypeQuality
all individuals: 895
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variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.793863854266539e-4
allele num: 2086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17452
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

DP
type: SiteQuality
SIO_000300: 7.31326e5

FS
type: SiteQuality
SIO_000300: 1.0792e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

VQSLOD
type: SiteQuality
SIO_000300: -1.75e0

QD
type: SiteQuality
SIO_000300: 4.79e0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 81
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1353
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4175
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2214
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 571
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 177
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 34833
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3986
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
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variant carriers: 4

GenotypeDepth
all individuals: 8332
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variant carriers: 0

GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
all individuals: 108
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variant carriers: 2

GenotypeDepth
all individuals: 27
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variant carriers: 1

GenotypeDepth
all individuals: 2609
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 1236
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 834
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variant carriers: 0

GenotypeQuality
all individuals: 33289
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
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variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1030
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 8060
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variant carriers: 0

GenotypeQuality
all individuals: 1988
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variant carriers: 0

GenotypeQuality
all individuals: 5467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 9.248554913294797e-4
allele num: 17300
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.518833535844471e-3
allele num: 3292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.387e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

FS
type: SiteQuality
SIO_000300: 6.2405e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 7.3116e5

QD
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.23e0

GenotypeDepth
all individuals: 60
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4033
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 389
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8101
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
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variant carriers: 0

GenotypeDepth
all individuals: 80
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variant carriers: 0

GenotypeDepth
all individuals: 575
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variant carriers: 1

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
all individuals: 97
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variant carriers: 0

GenotypeDepth
all individuals: 34961
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variant carriers: 1

GenotypeDepth
all individuals: 108
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variant carriers: 0

GenotypeDepth
all individuals: 2626
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variant carriers: 1

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 1427
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variant carriers: 0

GenotypeQuality
all individuals: 719
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variant carriers: 0

GenotypeQuality
all individuals: 1080
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variant carriers: 0

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 2006
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 5520
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variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 33827
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7822
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17660
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 8.939213349225268e-4
allele num: 3356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 5.759e0

DP
type: SiteQuality
SIO_000300: 7.33133e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 613
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1348
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8103
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variant carriers: 0

GenotypeDepth
all individuals: 4183
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variant carriers: 0

GenotypeDepth
all individuals: 389
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 174
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 4124
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variant carriers: 1

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
all individuals: 839
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GenotypeQuality
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GenotypeQuality
all individuals: 860
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GenotypeQuality
all individuals: 1425
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GenotypeQuality
all individuals: 2128
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33196
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variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 5294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.587155963302753e-4
allele num: 2180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.0e0

FS
type: SiteQuality
SIO_000300: 3.399e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 7.33347e5

QD
type: SiteQuality
SIO_000300: 3.097e1

GenotypeDepth
all individuals: 108
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 174
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GenotypeDepth
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GenotypeDepth
all individuals: 26
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GenotypeDepth
all individuals: 97
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GenotypeDepth
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GenotypeQuality
all individuals: 840
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 653
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GenotypeQuality
all individuals: 361
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 109
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GenotypeQuality
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GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 797
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GenotypeQuality
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GenotypeQuality
all individuals: 716
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GenotypeQuality
all individuals: 1424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5651
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.483658697082694e-5
allele num: 18236
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

African
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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

Other
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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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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -1.022e0

DP
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SIO_000300: 7.41365e5

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 1.067919692439129e-4
allele num: 18728
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 8.517887563884157e-4
allele num: 2348
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -5.5e-1

InbreedingCoeff
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MQRankSum
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MQ
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DP
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VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: 7.02e-1

QD
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SIO_000300: 7.28e0

ClippingRankSum
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SIO_000300: -5.37e-1

GenotypeDepth
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3470
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18766
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

QD
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FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.61e-2

DP
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SIO_000300: 7.46491e5

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

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

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

African
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8696
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.287648054145516e-5
allele num: 18912
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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QD
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.69e-2

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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East Asian
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allele count: 4
allele frequency: 1.63265306122449e-3
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South Asian
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

African
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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QD
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.68e-2

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -5.205e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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BaseQRankSum
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SIO_000300: -1.558e0

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

East Asian
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Finnish)
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FS
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SIO_000300: 0.0e0

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

East Asian
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num of homozygotes: 0

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