17-19265905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265905
    reference: chr 17
allele count: 5
allele frequency: 1.569563033651432e-4
allele num: 31856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+274C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2204C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.122C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-23C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.28C>T
  hgvsp: ENSP00000463165.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-11+8C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2204C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-23C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-23C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2204C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 2.75e1
  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: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29280
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6357
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro10Ser
num of homozygotes: 1
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

17-19265906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265906
    reference: chr 17
allele count: 1
allele frequency: 3.218953196420524e-5
allele num: 31066
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  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 quality: GenotypeQuality
  all individuals: 60
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 446
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2738
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2694
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8918
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-19265906-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265907
    reference: chr 17
allele count: 1
allele frequency: 3.218953196420524e-5
allele num: 31066
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-11+6dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+272dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-25dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-25dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-25dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2206dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-25dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.120dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2206dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2206dupT
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.26dupT
  hgvsp: ENSP00000463165.1:p.Ala12GlyfsTer?
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala12GlyfsTer?
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

17-19265906-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265906
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265906
    reference: chr 17
allele count: 13
allele frequency: 4.184639155346681e-4
allele num: 31066
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-24C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.121C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+273C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2205C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-24C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2205C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-24C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-11+7C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-24C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.27C>A
  hgvsp: ENST00000582857.1:c.27C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2205C>A
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28690
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-11+7C>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

17-19265914-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265914
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265914
    reference: chr 17
allele count: 2
allele frequency: 6.975933031042901e-5
allele num: 28670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-32A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-32A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-12A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-32A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-32A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.19A>T
  hgvsp: ENSP00000463165.1:p.Arg7Trp
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+265A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2213A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.113A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2213A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2213A>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26936
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg7Trp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-19265917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265917
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265917
    reference: chr 17
allele count: 7
allele frequency: 2.535680649134246e-4
allele num: 27606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-35C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-35C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-15C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.110C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.16C>T
  hgvsp: ENSP00000463165.1:p.Pro6Ser
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+262C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2216C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-35C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2216C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-35C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2216C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18477
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro6Ser
num of homozygotes: 1
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

17-19265918-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265918
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265918
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 27594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+261G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-16G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.15G>A
  hgvsp: ENST00000582857.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.109G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-36G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-36G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2217G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-36G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2217G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2217G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg5Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

17-19265920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265920
    reference: chr 17
allele count: 1
allele frequency: 3.792475728155339e-5
allele num: 26368
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2219C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-38C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.107C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+259C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-38C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-38C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.13C>A
  hgvsp: ENST00000582857.1:c.13C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-18C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2219C>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2219C>A
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25443
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg5Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-19265921-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265921
    reference: chr 17
allele count: 2
allele frequency: 7.584376185058778e-5
allele num: 26370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2220G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-19G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+258G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-39G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2220G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.12G>C
  hgvsp: ENST00000582857.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2220G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-39G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-39G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-39G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.106G>C
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  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 quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-19265922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265922
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265922
    reference: chr 17
allele count: 4
allele frequency: 1.519756838905775e-4
allele num: 26320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-40C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.105C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2221C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2221C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-40C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-40C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.11C>T
  hgvsp: ENSP00000463165.1:p.Ala4Val
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2221C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+257C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-40C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25561
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19835
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26119
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala4Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-19265924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265924
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265924
    reference: chr 17
allele count: 1
allele frequency: 3.878374185541421e-5
allele num: 25784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-42C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.9C>T
  hgvsp: ENST00000582857.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-42C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-42C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2223C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2223C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2223C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+255C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-42C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.103C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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 quality: GenotypeQuality
  all individuals: 25649
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg3Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-19265925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265925
    reference: chr 17
allele count: 1
allele frequency: 3.922799309587322e-5
allele num: 25492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.102G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-23G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463165
  ensembl transcript: ENST00000582857
  gene symbol: B9D1
  hgvsc: ENST00000582857.1:c.8G>C
  hgvsp: ENSP00000463165.1:p.Arg3Pro
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+254G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2224G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-43G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2224G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-43G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2224G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000433359
  ensembl transcript: ENST00000461069
  gene symbol: B9D1
  hgvsc: ENST00000461069.2:c.-43G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-43G>C
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg3Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-19265933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265933
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265933
    reference: chr 17
allele count: 1
allele frequency: 4.277159965782721e-5
allele num: 23380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2232T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-51T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.94T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-51T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+246T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2232T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-51T>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2232T>C
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-19265942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265942
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265942
    reference: chr 17
allele count: 1
allele frequency: 4.984051036682616e-5
allele num: 20064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-60G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2241G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+237G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-60G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2241G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-60G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.85G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2241G>A
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27966
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-19265952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265952
    reference: chr 17
allele count: 841
allele frequency: 4.646408839779006e-2
allele num: 18100
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-70G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-50G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+227G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2251G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2251G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.75G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-70G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2251G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-70G>A
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 31266
  bin: 2.5e0
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 15473
  bin: 7.5e0
  variant carriers: 934
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 1.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 30390
  bin: 7.5e0
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 6.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 84
num of homozygotes: 18
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-19265953-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265953
    reference: chr 17
allele count: 1
allele frequency: 5.739869130983814e-5
allele num: 17422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-71A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-71A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-51A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-71A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2252A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2252A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+226A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2252A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.74A>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-19265959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265959
    reference: chr 17
allele count: 1
allele frequency: 6.257822277847309e-5
allele num: 15980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-77G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-77G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-57G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2258G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2258G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2258G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.68G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-77G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+220G>C
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

17-19265961-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265961
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265961
    reference: chr 17
allele count: 1
allele frequency: 6.474168069403081e-5
allele num: 15446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-79C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2260C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-79C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-79C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2260C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2260C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.66C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+218C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-59C>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35008
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
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: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34012
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-19265970-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265970
    reference: chr 17
allele count: 1
allele frequency: 7.291818579553741e-5
allele num: 13714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-88C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2269C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-88C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.57C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2269C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+209C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2269C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-88C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-68C>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6999
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

17-19265972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265972
    reference: chr 17
allele count: 1
allele frequency: 7.39316871211001e-5
allele num: 13526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+207C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2271C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-90C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-90C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-90C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-70C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2271C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.55C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2271C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

17-19265974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265974
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265974
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.53C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2273C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-92C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2273C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-92C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000268841
  ensembl transcript: ENST00000268841
  gene symbol: B9D1
  hgvsc: ENST00000268841.6:c.-92C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2273C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+205C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-72C>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-19265989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265989
    reference: chr 17
allele count: 3
allele frequency: 2.440611780019525e-4
allele num: 12292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2288A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2288A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.38A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-87A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-107A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2288A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-107A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+190A>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33765
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-19265989-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265989
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265989
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-107A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2288A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.38A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-107A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2288A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+190A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2288A>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-87A>C
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35565
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33765
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-19265990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265990
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265990
    reference: chr 17
allele count: 1
allele frequency: 8.171269815329302e-5
allele num: 12238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-108C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2289C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-88C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-108C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+189C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.37C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2289C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2289C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-19265992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19265992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19265992
    reference: chr 17
allele count: 80
allele frequency: 6.576783952647156e-3
allele num: 12164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.35G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+187G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-90G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2291G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2291G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-110G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-110G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2291G>A
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 7.5e0
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34976
  bin: 2.5e0
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 1.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 2
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-19266017-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266017
    reference: chr 17
allele count: 2
allele frequency: 1.795332136445242e-4
allele num: 11140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2316G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2316G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-135G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-135G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-115G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+162G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2316G>C
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.10G>C
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-19266019-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266019
    reference: chr 17
allele count: 1
allele frequency: 8.976660682226212e-5
allele num: 11140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+160T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2318T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2318T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2318T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.8T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-117T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-137T>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-137T>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

17-19266020-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266020
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266020
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11098
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-138C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+159C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2319C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2319C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-118C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-138C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2319C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.7C>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-19266026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266026
    reference: chr 17
allele count: 3
allele frequency: 2.720841647016143e-4
allele num: 11026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2325C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-144C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2325C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2325C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.1C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+153C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-144C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-124C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25771
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-19266026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266026
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266026
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-144C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+153C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000261499
  ensembl transcript: ENST00000261499
  gene symbol: B9D1
  hgvsc: ENST00000261499.4:c.-144C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-124C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2325C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108641
  ensembl transcript: ENST00000477683
  gene symbol: B9D1
  hgvsc: ENST00000477683.1:n.1C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2325C>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2325C>G
  variant of: http://identifiers.org/hgnc/24123
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-19266027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266027
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2326A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2326A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+152A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2326A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-145A>G
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-125A>G
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  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: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23424
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-19266034-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266034
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266034
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+145A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2333A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000458525
  ensembl transcript: ENST00000575478
  gene symbol: B9D1
  hgvsc: ENST00000575478.1:c.-132A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2333A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2333A>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000378978
  ensembl transcript: ENST00000395616
  gene symbol: B9D1
  hgvsc: ENST00000395616.3:c.-152A>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20434
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS

17-19266058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266058
    reference: chr 17
allele count: 1
allele frequency: 9.393199323689649e-5
allele num: 10646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2357G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2357G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2357G>A
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+121G>A
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-19266065-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266065
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266064
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2365delC
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2365delC
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+113delC
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2365delC
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15241
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AG
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-19266067-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266067
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 10610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2366C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+112C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2366C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2366C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-19266075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19266075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19266075
    reference: chr 17
allele count: 7
allele frequency: 6.657789613848203e-4
allele num: 10514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000459857
  ensembl transcript: ENST00000575403
  gene symbol: B9D1
  hgvsc: ENST00000575403.1:c.-10-2374C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000463255
  ensembl transcript: ENST00000487415
  gene symbol: B9D1
  hgvsc: ENST00000487415.2:c.-10-2374C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000462565
  ensembl transcript: ENST00000574508
  gene symbol: B9D1
  hgvsc: ENST00000574508.2:c.-11+104C>T
  variant of: http://identifiers.org/hgnc/24123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108641
  ensembl protein: ENSP00000460939
  ensembl transcript: ENST00000477478
  gene symbol: B9D1
  hgvsc: ENST00000477478.2:c.-10-2374C>T
  variant of: http://identifiers.org/hgnc/24123
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  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: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6782
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-19282168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282168
    reference: chr 17
allele count: 1
allele frequency: 6.579813133307015e-5
allele num: 15198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.327C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.107C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+754C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+313C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+754C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+754C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-41C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-19282172-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282172
    reference: chr 17
allele count: 1
allele frequency: 6.501950585175553e-5
allele num: 15380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-42G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.111G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+758G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+317G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+758G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+758G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.331G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-37G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-19282191-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282191
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282191
    reference: chr 17
allele count: 1
allele frequency: 6.043026347594876e-5
allele num: 16548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-23A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+777A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+777A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.130A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.350A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+336A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+777A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-18A>T
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

17-19282192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282192
    reference: chr 17
allele count: 1
allele frequency: 5.980861244019139e-5
allele num: 16720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+778C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.131C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-22C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.351C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+778C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+778C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+337C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-17C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-17C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-19282195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282195
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 17222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+781G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.354G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-14G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+781G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+340G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.134G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+781G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-14G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-19282196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282196
    reference: chr 17
allele count: 1
allele frequency: 5.747787101965743e-5
allele num: 17398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.135A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+341A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.355A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+782A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+782A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-18A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+782A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-13A>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-13A>C
  variant of: http://identifiers.org/hgnc/6880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 0
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: 32400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

17-19282204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282204
    reference: chr 17
allele count: 1
allele frequency: 5.428881650380022e-5
allele num: 18420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+349C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+790C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.363C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+790C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-5C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+790C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.143C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29005
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-5-5C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-19282208-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282208
    reference: chr 17
allele count: 1
allele frequency: 5.262050094716901e-5
allele num: 19004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.40-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.367G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.76-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+794G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+353G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+794G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-5-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.4G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.77-1G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-6G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+794G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.147G>C
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22052
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-5-1G>C
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-19282210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282210
    reference: chr 17
allele count: 24
allele frequency: 1.248829222603809e-3
allele num: 19218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.6C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.149C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+796C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.77C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.78C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.369C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+796C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.41C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+796C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+355C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26393
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-19282231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282231
    reference: chr 17
allele count: 1
allele frequency: 4.134281461881925e-5
allele num: 24188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+376G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.18G>A
  hgvsp: ENST00000395604.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.18G>A
  hgvsp: ENST00000308406.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.390G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.18G>A
  hgvsp: ENST00000443215.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.98G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.62G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.18G>A
  hgvsp: ENST00000395602.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.99G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.170G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.27G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+817G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+817G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.18G>A
  hgvsp: ENST00000603493.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+817G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.18G>A
  hgvsp: ENST00000581260.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.18G>A
  hgvsp: ENST00000579284.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys6Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-19282232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282232
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 24498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.19G>A
  hgvsp: ENSP00000462819.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.63G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.19G>A
  hgvsp: ENSP00000378968.3:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.19G>A
  hgvsp: ENSP00000412902.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+818G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.28G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+818G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.19G>A
  hgvsp: ENSP00000462804.2:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.99G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.19G>A
  hgvsp: ENSP00000474397.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.391G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.19G>A
  hgvsp: ENSP00000311005.5:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.100G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.19G>A
  hgvsp: ENSP00000378966.4:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.171G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+377G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+818G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33045
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu7Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-19282235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282235
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282235
    reference: chr 17
allele count: 43
allele frequency: 1.693847002284724e-3
allele num: 25386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.102G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+821G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+821G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.22G>A
  hgvsp: ENSP00000311005.5:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.22G>A
  hgvsp: ENSP00000462804.2:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.22G>A
  hgvsp: ENSP00000378966.4:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.22G>A
  hgvsp: ENSP00000412902.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.22G>A
  hgvsp: ENSP00000474397.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+821G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.22G>A
  hgvsp: ENSP00000462819.1:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.22G>A
  hgvsp: ENSP00000378968.3:p.Glu8Lys
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.66G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.31G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.394G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.103G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.174G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+380G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33752
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Glu8Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-19282240-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282240
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282240
    reference: chr 17
allele count: 45
allele frequency: 1.685898396523303e-3
allele num: 26692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.27C>A
  hgvsp: ENSP00000462819.1:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.179C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+826C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.108C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+385C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.27C>A
  hgvsp: ENSP00000412902.1:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.107C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.27C>A
  hgvsp: ENSP00000462804.2:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.399C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.27C>A
  hgvsp: ENSP00000311005.5:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.27C>A
  hgvsp: ENSP00000474397.1:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.36C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.27C>A
  hgvsp: ENSP00000378966.4:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.71C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.27C>A
  hgvsp: ENSP00000378968.3:p.Asp9Glu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+826C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+826C>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34694
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp9Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-19282241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282241
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282241
    reference: chr 17
allele count: 1
allele frequency: 3.654169407293722e-5
allele num: 27366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.72G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.180G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+386G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.28G>A
  hgvsp: ENSP00000474397.1:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.400G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.28G>A
  hgvsp: ENSP00000462804.2:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.28G>A
  hgvsp: ENSP00000412902.1:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+827G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+827G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.28G>A
  hgvsp: ENSP00000378966.4:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.28G>A
  hgvsp: ENSP00000378968.3:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.108G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.37G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.28G>A
  hgvsp: ENSP00000462819.1:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+827G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.109G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.28G>A
  hgvsp: ENSP00000311005.5:p.Gly10Ser
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly10Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-19282247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282247
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282247
    reference: chr 17
allele count: 1
allele frequency: 3.241280954233113e-5
allele num: 30852
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.34G>A
  hgvsp: ENSP00000311005.5:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.34G>A
  hgvsp: ENSP00000378968.3:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.115G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.78G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.34G>A
  hgvsp: ENSP00000462819.1:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.34G>A
  hgvsp: ENSP00000378966.4:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.43G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.34G>A
  hgvsp: ENSP00000412902.1:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.34G>A
  hgvsp: ENSP00000474397.1:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.406G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.114G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.34G>A
  hgvsp: ENSP00000462804.2:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+392G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.186G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+833G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+833G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+833G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp12Asn
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-19282250-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282250
    reference: chr 17
allele count: 1
allele frequency: 3.076355134436719e-5
allele num: 32506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.37G>C
  hgvsp: ENSP00000412902.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.409G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.37G>C
  hgvsp: ENSP00000462819.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.118G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.46G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.37G>C
  hgvsp: ENSP00000378966.4:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+836G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.81G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.37G>C
  hgvsp: ENSP00000474397.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.37G>C
  hgvsp: ENSP00000311005.5:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.37G>C
  hgvsp: ENSP00000378968.3:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+395G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.189G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+836G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+836G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.117G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.37G>C
  hgvsp: ENSP00000462804.2:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly13Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

17-19282256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282256
    reference: chr 17
allele count: 2
allele frequency: 5.617661929105106e-5
allele num: 35602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.195G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.43G>A
  hgvsp: ENSP00000378966.4:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.43G>A
  hgvsp: ENSP00000378968.3:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.87G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.43G>A
  hgvsp: ENSP00000462819.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.43G>A
  hgvsp: ENSP00000311005.5:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.123G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.415G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+842G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.43G>A
  hgvsp: ENSP00000462804.2:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.124G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.43G>A
  hgvsp: ENSP00000412902.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.52G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.43G>A
  hgvsp: ENSP00000474397.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+842G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+401G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+842G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala15Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-19282261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282261
    reference: chr 17
allele count: 1
allele frequency: 2.59888767607464e-5
allele num: 38478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.57G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.48G>A
  hgvsp: ENST00000603493.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+847G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+847G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.48G>A
  hgvsp: ENST00000579284.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+406G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.92G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.48G>A
  hgvsp: ENST00000581260.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.48G>A
  hgvsp: ENST00000308406.5:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.48G>A
  hgvsp: ENST00000395602.4:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.128G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+847G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.129G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.48G>A
  hgvsp: ENST00000443215.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.200G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.420G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.48G>A
  hgvsp: ENST00000395604.3:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu16Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-19282266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282266
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282266
    reference: chr 17
allele count: 1
allele frequency: 2.332307118201325e-5
allele num: 42876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.134C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.53C>T
  hgvsp: ENSP00000378966.4:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.133C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.53C>T
  hgvsp: ENSP00000474397.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+852C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.53C>T
  hgvsp: ENSP00000462804.2:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.53C>T
  hgvsp: ENSP00000311005.5:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.205C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.53C>T
  hgvsp: ENSP00000412902.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+852C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.425C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.53C>T
  hgvsp: ENSP00000462819.1:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.62C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.53C>T
  hgvsp: ENSP00000378968.3:p.Pro18Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.97C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+411C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+852C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro18Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/17-19282272-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282272
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282272
    reference: chr 17
allele count: 2
allele frequency: 4.211412929037692e-5
allele num: 47490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.59C>A
  hgvsp: ENSP00000462819.1:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.59C>A
  hgvsp: ENSP00000378968.3:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+858C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.431C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+417C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.59C>A
  hgvsp: ENSP00000311005.5:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.139C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.59C>A
  hgvsp: ENSP00000412902.1:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.59C>A
  hgvsp: ENSP00000378966.4:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.103C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.68C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.59C>A
  hgvsp: ENSP00000462804.2:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+858C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+858C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.59C>A
  hgvsp: ENSP00000474397.1:p.Pro20His
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.211C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.140C>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro20His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-19282273-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282273
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282273
    reference: chr 17
allele count: 1
allele frequency: 2.073828287017835e-5
allele num: 48220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.69C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.60C>A
  hgvsp: ENST00000443215.1:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.104C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.60C>A
  hgvsp: ENST00000603493.1:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.60C>A
  hgvsp: ENST00000581260.1:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.60C>A
  hgvsp: ENST00000395602.4:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.60C>A
  hgvsp: ENST00000579284.1:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+418C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+859C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.140C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+859C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.60C>A
  hgvsp: ENST00000308406.5:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.60C>A
  hgvsp: ENST00000395604.3:c.60C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.432C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+859C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.212C>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.141C>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro20Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-19282274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282274
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282274
    reference: chr 17
allele count: 2
allele frequency: 4.041710451863228e-5
allele num: 49484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.61G>T
  hgvsp: ENSP00000378968.3:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.105G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.61G>T
  hgvsp: ENSP00000474397.1:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.61G>T
  hgvsp: ENSP00000311005.5:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.61G>T
  hgvsp: ENSP00000462819.1:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.61G>T
  hgvsp: ENSP00000412902.1:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.61G>T
  hgvsp: ENSP00000462804.2:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.141G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+860G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.61G>T
  hgvsp: ENSP00000378966.4:p.Val21Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.213G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+860G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.433G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+419G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.142G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.70G>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+860G>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val21Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

17-19282281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282281
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282281
    reference: chr 17
allele count: 2
allele frequency: 3.666361136571952e-5
allele num: 54550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+867C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.68C>T
  hgvsp: ENSP00000311005.5:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+867C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.220C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.77C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.149C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.68C>T
  hgvsp: ENSP00000378968.3:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.68C>T
  hgvsp: ENSP00000462804.2:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.440C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.68C>T
  hgvsp: ENSP00000412902.1:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.112C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.148C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.68C>T
  hgvsp: ENSP00000378966.4:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.68C>T
  hgvsp: ENSP00000462819.1:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.68C>T
  hgvsp: ENSP00000474397.1:p.Ala23Val
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+867C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+426C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala23Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-19282282-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282282
    reference: chr 17
allele count: 1
allele frequency: 1.800439307190955e-5
allele num: 55542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.69C>G
  hgvsp: ENST00000443215.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.69C>G
  hgvsp: ENST00000308406.5:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.221C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.69C>G
  hgvsp: ENST00000579284.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.69C>G
  hgvsp: ENST00000395604.3:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.69C>G
  hgvsp: ENST00000581260.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.78C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+868C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.441C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+868C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.69C>G
  hgvsp: ENST00000603493.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.69C>G
  hgvsp: ENST00000395602.4:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.113C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.150C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+427C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.149C>G
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+868C>G
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala23Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-19282285-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282285
    reference: chr 17
allele count: 1
allele frequency: 1.705378764623623e-5
allele num: 58638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.81A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.72A>T
  hgvsp: ENSP00000311005.5:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.116A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.152A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.72A>T
  hgvsp: ENSP00000412902.1:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.72A>T
  hgvsp: ENSP00000378966.4:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.224A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.153A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+871A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.72A>T
  hgvsp: ENSP00000462819.1:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.72A>T
  hgvsp: ENSP00000462804.2:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.72A>T
  hgvsp: ENSP00000378968.3:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+871A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.444A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+430A>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.72A>T
  hgvsp: ENSP00000474397.1:p.Glu24Asp
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+871A>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.75e1
  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 quality: GenotypeQuality
hgvs: p.Glu24Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-19282289-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282289
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282289
    reference: chr 17
allele count: 69
allele frequency: 1.099671692219424e-3
allele num: 62746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.76G>A
  hgvsp: ENSP00000412902.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.120G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.76G>A
  hgvsp: ENSP00000378966.4:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.228G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.448G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+875G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+875G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+434G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.76G>A
  hgvsp: ENSP00000311005.5:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.156G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.76G>A
  hgvsp: ENSP00000462819.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.76G>A
  hgvsp: ENSP00000462804.2:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.76G>A
  hgvsp: ENSP00000474397.1:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.76G>A
  hgvsp: ENSP00000378968.3:p.Ala26Thr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.157G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+875G>A
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.85G>A
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26926
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala26Thr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-19282292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282292
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282292
    reference: chr 17
allele count: 4
allele frequency: 5.96551929845493e-5
allele num: 67052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.451C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.79C>T
  hgvsp: ENSP00000474397.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.79C>T
  hgvsp: ENSP00000462804.2:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.79C>T
  hgvsp: ENSP00000412902.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.123C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+878C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.231C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.88C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.79C>T
  hgvsp: ENSP00000311005.5:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+878C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.159C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.79C>T
  hgvsp: ENSP00000378966.4:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.79C>T
  hgvsp: ENSP00000462819.1:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.160C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+437C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+878C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.79C>T
  hgvsp: ENSP00000378968.3:p.His27Tyr
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His27Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-19282303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282303
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282303
    reference: chr 17
allele count: 2
allele frequency: 2.429248147698287e-5
allele num: 82330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.90C>T
  hgvsp: ENST00000443215.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.171C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.90C>T
  hgvsp: ENST00000308406.5:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.90C>T
  hgvsp: ENST00000603493.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.170C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+889C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.242C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.90C>T
  hgvsp: ENST00000581260.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+889C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+889C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.90C>T
  hgvsp: ENST00000579284.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.90C>T
  hgvsp: ENST00000395604.3:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.90C>T
  hgvsp: ENST00000395602.4:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.462C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.99C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+448C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.134C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25890
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala30Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-19282305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282305
    reference: chr 17
allele count: 4
allele frequency: 4.739561116640599e-5
allele num: 84396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.136C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.92C>T
  hgvsp: ENSP00000462804.2:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+891C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.101C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.92C>T
  hgvsp: ENSP00000412902.1:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.92C>T
  hgvsp: ENSP00000462819.1:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.464C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.172C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.92C>T
  hgvsp: ENSP00000378966.4:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+891C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.92C>T
  hgvsp: ENSP00000474397.1:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.92C>T
  hgvsp: ENSP00000311005.5:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.244C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.92C>T
  hgvsp: ENSP00000378968.3:p.Ser31Phe
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+450C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.173C>T
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+891C>T
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser31Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-19282307-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282307
    reference: chr 17
allele count: 1
allele frequency: 1.149055476398401e-5
allele num: 87028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  hgvsc: ENST00000573466.1:n.138G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  hgvsc: ENST00000490660.2:n.103G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsc: ENST00000308406.5:c.94G>C
  hgvsp: ENSP00000311005.5:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  hgvsc: ENST00000570306.1:n.466G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsc: ENST00000579284.1:c.94G>C
  hgvsp: ENSP00000462819.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  hgvsc: ENST00000571657.1:n.303+893G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsc: ENST00000395602.4:c.94G>C
  hgvsp: ENSP00000378966.4:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  hgvsc: ENST00000573417.1:n.110+893G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsc: ENST00000443215.1:c.94G>C
  hgvsp: ENSP00000412902.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  hgvsc: ENST00000486905.1:n.175G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsc: ENST00000603493.1:c.94G>C
  hgvsp: ENSP00000474397.1:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsc: ENST00000395604.3:c.94G>C
  hgvsp: ENSP00000378968.3:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsc: ENST00000581260.1:c.94G>C
  hgvsp: ENSP00000462804.2:p.Val32Leu
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  hgvsc: ENST00000482850.1:c.-20+452G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  hgvsc: ENST00000572853.1:n.246G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  hgvsc: ENST00000572968.1:n.174G>C
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  hgvsc: ENST00000299612.7:c.-20+893G>C
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val32Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

17-19282311-CGGCCAAGAACCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19282311
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19282299
    reference: chr 17
allele count: 2
allele frequency: 2.199929602252728e-5
allele num: 90912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000458146
  ensembl transcript: ENST00000482850
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000490660
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000486905
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000299612
  ensembl transcript: ENST00000299612
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378966
  ensembl transcript: ENST00000395602
  gene symbol: MAPK7
  hgvsp: ENSP00000378966.4:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000311005
  ensembl transcript: ENST00000308406
  gene symbol: MAPK7
  hgvsp: ENSP00000311005.5:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000412902
  ensembl transcript: ENST00000443215
  gene symbol: MAPK7
  hgvsp: ENSP00000412902.1:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462819
  ensembl transcript: ENST00000579284
  gene symbol: MAPK7
  hgvsp: ENSP00000462819.1:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572968
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573466
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000573417
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000378968
  ensembl transcript: ENST00000395604
  gene symbol: MAPK7
  hgvsp: ENSP00000378968.3:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000462804
  ensembl transcript: ENST00000581260
  gene symbol: MAPK7
  hgvsp: ENSP00000462804.2:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000571657
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000572853
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166484
  ensembl protein: ENSP00000474397
  ensembl transcript: ENST00000603493
  gene symbol: MAPK7
  hgvsp: ENSP00000474397.1:p.Lys35_Ala38del
  variant of: http://identifiers.org/hgnc/6880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166484
  ensembl transcript: ENST00000570306
  gene symbol: MAPK7
  variant of: http://identifiers.org/hgnc/6880
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys35_Ala38del
num of homozygotes: 0
reference allele: CGGCCAAGAACCT

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1584
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31471
bin: 2.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13750
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.116071428571429e-3
allele num: 1792
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.345227475468332e-4
allele num: 8968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14826
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.41e-2

DP
type: SiteQuality
SIO_000300: 5.46263e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.803e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.97350069735007e-5
allele num: 14340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 5.35501e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.92e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
all individuals: 60
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2095
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.820721769499418e-4
allele num: 1718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14340
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 5.35501e5

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5858
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1259
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30245
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14531
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 4.083147735708983e-3
allele num: 2694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14340
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.164144353899884e-3
allele num: 1718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.92e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.35501e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

GenotypeQuality
all individuals: 742
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 17193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1024
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.550147263990079e-4
allele num: 12902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.165e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

DP
type: SiteQuality
SIO_000300: 5.04909e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.01e1

GenotypeQuality
all individuals: 2771
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1399
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East 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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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 7.012622720897616e-4
allele num: 1426
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.93000693000693e-4
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 8.31e-1

ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East 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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South Asian
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Other
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European (Non-Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1308
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 frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele count: 2
allele frequency: 8.920606601248885e-4
allele num: 2242
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Other
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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SIO_000300: 1.516e0

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 4.80008e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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allele num: 204
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

Latino
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allele frequency: 7.598784194528875e-4
allele num: 1316
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele num: 2234
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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African
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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MQRankSum
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FS
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MQ
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BaseQRankSum
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QD
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VQSLOD
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DP
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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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East Asian
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Other
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.898e1

DP
type: SiteQuality
SIO_000300: 4.39092e5

VQSLOD
type: SiteQuality
SIO_000300: -1.559e0

GenotypeQuality
all individuals: 573
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.00857e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1042
bin: 9.75e1
variant carriers: 1003

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 9

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 57

GenotypeQuality
all individuals: 1100
bin: 1.25e1
variant carriers: 46

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 20

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 279
bin: 7.25e1
variant carriers: 41

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 55

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 66

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 101

GenotypeQuality
all individuals: 13004
bin: 2.25e1
variant carriers: 69

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 60

GenotypeQuality
all individuals: 1475
bin: 1.75e1
variant carriers: 45

European (Finnish)
type: Population
allele count: 16
allele frequency: 1.290322580645161e-1
allele num: 124
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 2.742616033755274e-2
allele num: 474
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 5.128205128205128e-2
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 190
allele frequency: 1.479750778816199e-1
allele num: 1284
num of homozygotes: 6

African
type: Population
allele count: 22
allele frequency: 1.624815361890694e-2
allele num: 1354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 342
allele frequency: 5.102954341987467e-2
allele num: 6702
num of homozygotes: 5

South Asian
type: Population
allele count: 250
allele frequency: 3.122658006495129e-2
allele num: 8006
num of homozygotes: 7

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.90243e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 13373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32211
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-4
allele num: 6320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.018e1

DP
type: SiteQuality
SIO_000300: 3.64318e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 3.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.826e0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4101
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
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variant carriers: 0

GenotypeQuality
all individuals: 10251
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variant carriers: 0

GenotypeQuality
all individuals: 33666
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variant carriers: 0

GenotypeQuality
all individuals: 770
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variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.273885350318471e-4
allele num: 7850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.053e0

DP
type: SiteQuality
SIO_000300: 3.40322e5

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 3.572e0

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.32483e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 1076
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4214
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.06164e5

QD
type: SiteQuality
SIO_000300: 1.255e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.85e-2

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4049
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 762
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.427184466019417e-4
allele num: 4120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.01582e5

QD
type: SiteQuality
SIO_000300: 7.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1189
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.119999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.837e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.96945e5

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.272e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 1.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.012048192771084e-3
allele num: 332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.637826431020839e-4
allele num: 7582
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 3.412e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 2.63569e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 3.412e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 2.63569e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

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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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.08641975308642e-3
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
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SIO_000300: 2.61563e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.657999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 99

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.746355685131195e-4
allele num: 3430
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

East Asian
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allele count: 54
allele frequency: 1.677018633540373e-1
allele num: 322
num of homozygotes: 4

Latino
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allele count: 1
allele frequency: 7.042253521126761e-3
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.263157894736842e-3
allele num: 570
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 2.381582429214078e-3
allele num: 7558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.705e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 2.61188e5

QD
type: SiteQuality
SIO_000300: 1.24e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 2.668801708033093e-4
allele num: 7494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: -2.063e-1

FS
type: SiteQuality
SIO_000300: 2.425e0

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 2.12966e5

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.371544167228591e-4
allele num: 2966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.030000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

DP
type: SiteQuality
SIO_000300: 2.10996e5

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.097e0

QD
type: SiteQuality
SIO_000300: 8.15e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 272
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.08538e5

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 104
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2904
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African
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allele count: 3
allele frequency: 1.111111111111111e-2
allele num: 270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.897e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 2.02637e5

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 270
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Latino
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allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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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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variant carriers: 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: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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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bin: 4.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
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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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

South Asian
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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

DP
type: SiteQuality
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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FS
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2728
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: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.355380862022228e-4
allele num: 7378
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: 7.69e-1

FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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MQRankSum
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QD
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SIO_000300: 1.388e1

BaseQRankSum
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SIO_000300: 2.68e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 90
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.326e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
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FS
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SIO_000300: 2.246e0

DP
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SIO_000300: 1.60505e5

MQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -9.02e-2

ClippingRankSum
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SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

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

East Asian
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ReadPosRankSum
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SIO_000300: -3.48e-1

DP
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SIO_000300: 1.59231e5

FS
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InbreedingCoeff
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SIO_000300: -9.130000000000001e-2

QD
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BaseQRankSum
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SIO_000300: -3.52e-1

MQRankSum
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ClippingRankSum
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SIO_000300: 1.74e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7312
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: 7
allele frequency: 2.619760479041916e-3
allele num: 2672
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 8.120000000000001e-1

DP
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SIO_000300: 1.55432e5

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -9.660000000000001e-2

QD
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SIO_000300: 1.234e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

African
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allele count: 1
allele frequency: 5.241090146750524e-4
allele num: 1908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.606e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -2.7e-1

ClippingRankSum
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SIO_000300: 7.31e-1

DP
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SIO_000300: 2.89673e5

VQSLOD
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SIO_000300: -1.277e0

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1920
num of homozygotes: 0

South Asian
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allele frequency: 1.579778830963665e-4
allele num: 6330
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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East 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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Other
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.710000000000001e-2

QD
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FS
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SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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DP
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ClippingRankSum
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SIO_000300: 2.89e-1

MQRankSum
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SIO_000300: -1.599e0

ReadPosRankSum
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SIO_000300: -2.89e-1

MQ
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele num: 364
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6584
num of homozygotes: 0

African
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Latino
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allele frequency: 2.717391304347826e-3
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East Asian
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South Asian
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European (Finnish)
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Other
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FS
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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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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Other
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Latino
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South Asian
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num of homozygotes: 0

European (Finnish)
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African
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European (Non-Finnish)
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 6.534239414532148e-5
allele num: 15304
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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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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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 2.141327623126338e-4
allele num: 9340
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.54e-2

ClippingRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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allele num: 2230
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 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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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 3368
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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allele num: 4750
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
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DP
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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DP
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ReadPosRankSum
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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VQSLOD
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DP
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FS
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MQ
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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VQSLOD
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MQ
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European (Non-Finnish)
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4876
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.110309221118081e-4
allele num: 36026
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

VQSLOD
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
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SIO_000300: -1.659e0

ClippingRankSum
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SIO_000300: -6.919999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.77383e5

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: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5954
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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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 4.408199250606127e-5
allele num: 45370
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

MQRankSum
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SIO_000300: -3.47e-1

DP
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SIO_000300: 1.013733e6

FS
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SIO_000300: 1.491e0

BaseQRankSum
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SIO_000300: -1.54e-1

ReadPosRankSum
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SIO_000300: 7.84e-1

MQ
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SIO_000300: 5.891e1

InbreedingCoeff
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SIO_000300: -2.6e-3

ClippingRankSum
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SIO_000300: -9.49e-1

VQSLOD
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SIO_000300: 8.54e-1

QD
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SIO_000300: 1.248e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13088
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46594
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 6.523157208088715e-4
allele num: 6132
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7192
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.52e0

FS
type: SiteQuality
SIO_000300: 6.706e0

ClippingRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -2.4e-3

VQSLOD
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SIO_000300: -3.912e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.033611e6

BaseQRankSum
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SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3492
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48168
num of homozygotes: 0

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

African
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allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
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Latino
type: Population
allele count: 1
allele frequency: 1.285016705217168e-4
allele num: 7782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.309e1

ClippingRankSum
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MQRankSum
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MQ
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DP
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SIO_000300: 1.058271e6

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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