17-74381781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381781
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.803C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+46C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5542
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-74381785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381785
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.807G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+50G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-74381833-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381833
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381833
    reference: chr 17
allele count: 1
allele frequency: 7.631257631257631e-5
allele num: 13104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.855C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+98C>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14566
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

17-74381834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381834
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 13102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.856G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+99G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9810
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-74381836-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381836
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381836
    reference: chr 17
allele count: 1
allele frequency: 7.630093087135663e-5
allele num: 13106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.858G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+101G>C
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14554
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

17-74381849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381849
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.871C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+114C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14544
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-74381850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381850
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.872C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+115C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14606
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34005
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-74381871-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381871
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.893C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.268+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.10+136C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16238
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-74381880-G-GCCAAGGAAGGGGGTGGCAGGGGCGCCGCGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381880
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381911
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 12398
alternate allele: GCCAAGGAAGGGGGTGGCAGGGGCGCCGCGTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31726
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-74381911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381911
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381911
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 11670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-155C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.933C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-113C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33946
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-74381975-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381975
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381975
    reference: chr 17
allele count: 2
allele frequency: 1.003613006824568e-4
allele num: 19928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-49G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.997G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-91G>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7489
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-74381982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74381982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74381982
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 19980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-42A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1004A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-84A>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26912
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
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: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-74382000-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382000
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382000
    reference: chr 17
allele count: 1
allele frequency: 4.482294935006723e-5
allele num: 22310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1022C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-66C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-24C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31972
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27237
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-74382001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382001
    reference: chr 17
allele count: 1
allele frequency: 4.416961130742049e-5
allele num: 22640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1023C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-23C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-65C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-74382006-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382006
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382006
    reference: chr 17
allele count: 1
allele frequency: 4.202740186601664e-5
allele num: 23794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1028T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-18T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-60T>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

17-74382010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382010
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382010
    reference: chr 17
allele count: 119
allele frequency: 4.76342966936194e-3
allele num: 24982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1032C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-56C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-14C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 1.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34781
  bin: 7.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 10
num of homozygotes: 1
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-74382016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382016
    reference: chr 17
allele count: 6
allele frequency: 2.148689299527288e-4
allele num: 27924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1038C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-8C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-50C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35577
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.25e1
  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 quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33641
  bin: 2.25e1
  variant carriers: 0
hgvs: c.11-8C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-74382017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382017
    reference: chr 17
allele count: 1
allele frequency: 3.457814661134163e-5
allele num: 28920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.11-7C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1039C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-49C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-49C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  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: 4018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 3.25e1
  variant carriers: 0
hgvs: c.11-7C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-74382029-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382029
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382029
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 36988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.16G>T
  hgvsp: ENSP00000468547.1:p.Gly6Cys
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1051G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-37G>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34932
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34200
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly6Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-74382030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382030
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382030
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 37814
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1052G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.17G>A
  hgvsp: ENSP00000468547.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-36G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34770
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  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: 556
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34178
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly6Asp
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: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-74382035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382035
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382035
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 41730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1057G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.22G>A
  hgvsp: ENSP00000468547.1:p.Gly8Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-31G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly8Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-74382044-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382044
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382044
    reference: chr 17
allele count: 22
allele frequency: 4.420688823694892e-4
allele num: 49766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.31C>G
  hgvsp: ENSP00000468547.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1066C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-22C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30531
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12664
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.75e1
  variant carriers: 9
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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu11Val
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-74382046-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382046
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382046
    reference: chr 17
allele count: 3
allele frequency: 5.855486590935707e-5
allele num: 51234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1068C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.33C>G
  hgvsp: ENST00000590959.1:c.33C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-20C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-20C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30256
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu11Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

17-74382046-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382046
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382044
    reference: chr 17
allele count: 139
allele frequency: 2.713042120466878e-3
allele num: 51234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-18_269-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1070_1071delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.35_36delTT
  hgvsp: ENSP00000468547.1:p.Phe12TrpfsTer46
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-18_11-17delTT
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6980
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29958
  bin: 7.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30256
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.75e1
  variant carriers: 153
genotype quality: GenotypeQuality
  all individuals: 14131
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe12TrpfsTer46
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: CTT
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-74382050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382050
    reference: chr 17
allele count: 3
allele frequency: 5.603915268801136e-5
allele num: 53534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.37G>A
  hgvsp: ENSP00000468547.1:p.Gly13Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-16G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly13Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-74382050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382050
    reference: chr 17
allele count: 2
allele frequency: 3.73594351253409e-5
allele num: 53534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.37G>T
  hgvsp: ENSP00000468547.1:p.Gly13Cys
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1072G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-16G>T
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29500
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly13Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

17-74382053-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382053
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382050
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 55450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1078_1080delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.43_45delGTT
  hgvsp: ENSP00000468547.1:p.Val15del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-10_269-8delGTT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-10_11-8delGTT
  variant of: http://identifiers.org/hgnc/11240
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.25e1
  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 depth: GenotypeDepth
  all individuals: 2954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28379
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val15del
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TTTG
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-74382064-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382064
    reference: chr 17
allele count: 2
allele frequency: 3.288391976323578e-5
allele num: 60820
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.269-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.51A>G
  hgvsp: ENST00000590959.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.11-2A>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1086A>G
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
hgvs: c.269-2A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-74382067-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382067
    reference: chr 17
allele count: 126
allele frequency: 1.99203187250996e-3
allele num: 63252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1089G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.12G>C
  hgvsp: ENST00000590379.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.270G>C
  hgvsp: ENST00000323374.4:c.270G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.12G>C
  hgvsp: ENST00000545180.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.12G>C
  hgvsp: ENST00000591651.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.12G>C
  hgvsp: ENST00000592299.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.12G>C
  hgvsp: ENST00000392496.3:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.54G>C
  hgvsp: ENST00000590959.1:c.54G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.12G>C
  hgvsp: ENST00000588682.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17468
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24837
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
hgvs: c.270G>C
num of homozygotes: 2
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

17-74382067-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382067
    reference: chr 17
allele count: 1
allele frequency: 1.580977676595206e-5
allele num: 63252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.12G>T
  hgvsp: ENST00000592299.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.54G>T
  hgvsp: ENST00000590959.1:c.54G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.12G>T
  hgvsp: ENST00000588682.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.12G>T
  hgvsp: ENST00000591651.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.270G>T
  hgvsp: ENST00000323374.4:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.12G>T
  hgvsp: ENST00000590379.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.12G>T
  hgvsp: ENST00000545180.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.12G>T
  hgvsp: ENST00000392496.3:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1089G>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17468
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
hgvs: c.270G>T
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-74382072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382072
    reference: chr 17
allele count: 2
allele frequency: 3.019050206804939e-5
allele num: 66246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.17G>A
  hgvsp: ENSP00000440970.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.17G>A
  hgvsp: ENSP00000465002.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.17G>A
  hgvsp: ENSP00000376285.2:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.17G>A
  hgvsp: ENSP00000465726.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.17G>A
  hgvsp: ENSP00000466422.1:p.Gly6Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.59G>A
  hgvsp: ENSP00000468547.1:p.Gly20Asp
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1094G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468474
  ensembl transcript: ENST00000591651
  gene symbol: SPHK1
  hgvsc: ENST00000591651.1:c.17G>A
  hgvsp: ENST00000591651.1:c.17G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.275G>A
  hgvsp: ENSP00000313681.3:p.Gly92Asp
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17528
  bin: 2.25e1
  variant carriers: 0
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
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly92Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-74382076-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382076
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382076
    reference: chr 17
allele count: 4
allele frequency: 5.776173285198556e-5
allele num: 69250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.21C>A
  hgvsp: ENST00000592299.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1098C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.21C>A
  hgvsp: ENST00000545180.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.21C>A
  hgvsp: ENST00000392496.3:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.21C>A
  hgvsp: ENST00000590379.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.63C>A
  hgvsp: ENST00000590959.1:c.63C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.21C>A
  hgvsp: ENST00000588682.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.279C>A
  hgvsp: ENST00000323374.4:c.279C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22234
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro93Pro
num of homozygotes: 1
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-74382078-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382078
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382078
    reference: chr 17
allele count: 1
allele frequency: 1.415828967860683e-5
allele num: 70630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.23G>T
  hgvsp: ENSP00000465726.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.23G>T
  hgvsp: ENSP00000466422.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1100G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.65G>T
  hgvsp: ENSP00000468547.1:p.Arg22Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.281G>T
  hgvsp: ENSP00000313681.3:p.Arg94Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.23G>T
  hgvsp: ENSP00000465002.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.23G>T
  hgvsp: ENSP00000376285.2:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.23G>T
  hgvsp: ENSP00000440970.1:p.Arg8Leu
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg94Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-74382080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382080
    reference: chr 17
allele count: 1
allele frequency: 1.390665850809368e-5
allele num: 71908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1102G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.25G>A
  hgvsp: ENSP00000466422.1:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.25G>A
  hgvsp: ENSP00000440970.1:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.25G>A
  hgvsp: ENSP00000465726.1:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.25G>A
  hgvsp: ENSP00000465002.1:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.67G>A
  hgvsp: ENSP00000468547.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.25G>A
  hgvsp: ENSP00000376285.2:p.Gly9Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.283G>A
  hgvsp: ENSP00000313681.3:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly95Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-74382088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382088
    reference: chr 17
allele count: 1
allele frequency: 1.336148152107106e-5
allele num: 74842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.33C>T
  hgvsp: ENST00000592299.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.33C>T
  hgvsp: ENST00000392496.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.33C>T
  hgvsp: ENST00000590379.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.291C>T
  hgvsp: ENST00000323374.4:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.33C>T
  hgvsp: ENST00000545180.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.75C>T
  hgvsp: ENST00000590959.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.33C>T
  hgvsp: ENST00000588682.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1110C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu97Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-74382089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382089
    reference: chr 17
allele count: 4
allele frequency: 5.321130208056191e-5
allele num: 75172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.34C>T
  hgvsp: ENSP00000465002.1:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.292C>T
  hgvsp: ENSP00000313681.3:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.34C>T
  hgvsp: ENSP00000376285.2:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.34C>T
  hgvsp: ENSP00000466422.1:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.76C>T
  hgvsp: ENSP00000468547.1:p.Pro26Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.34C>T
  hgvsp: ENSP00000465726.1:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1111C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.34C>T
  hgvsp: ENSP00000440970.1:p.Pro12Ser
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 1
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: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro98Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-74382090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382090
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 75240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.77C>T
  hgvsp: ENSP00000468547.1:p.Pro26Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.35C>T
  hgvsp: ENSP00000465726.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.35C>T
  hgvsp: ENSP00000465002.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.293C>T
  hgvsp: ENSP00000313681.3:p.Pro98Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1112C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.35C>T
  hgvsp: ENSP00000440970.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.35C>T
  hgvsp: ENSP00000376285.2:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.35C>T
  hgvsp: ENSP00000466422.1:p.Pro12Leu
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 2.5e0
  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: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro98Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-74382093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382093
    reference: chr 17
allele count: 1
allele frequency: 1.298802504091228e-5
allele num: 76994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1115G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.38G>C
  hgvsp: ENSP00000376285.2:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.38G>C
  hgvsp: ENSP00000465002.1:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.38G>C
  hgvsp: ENSP00000465726.1:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.38G>C
  hgvsp: ENSP00000440970.1:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.296G>C
  hgvsp: ENSP00000313681.3:p.Arg99Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.38G>C
  hgvsp: ENSP00000466422.1:p.Arg13Pro
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.80G>C
  hgvsp: ENSP00000468547.1:p.Arg27Pro
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg99Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

17-74382097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382097
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382097
    reference: chr 17
allele count: 1
allele frequency: 1.262945188178833e-5
allele num: 79180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.42C>G
  hgvsp: ENST00000588682.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1119C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.42C>G
  hgvsp: ENST00000590379.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.42C>G
  hgvsp: ENST00000545180.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.42C>G
  hgvsp: ENST00000592299.1:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.42C>G
  hgvsp: ENST00000392496.3:c.42C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.84C>G
  hgvsp: ENST00000590959.1:c.84C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.300C>G
  hgvsp: ENST00000323374.4:c.300C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro100Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-74382101-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382101
    reference: chr 17
allele count: 1
allele frequency: 1.223810456236538e-5
allele num: 81712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.46C>G
  hgvsp: ENSP00000465002.1:p.Arg16Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1123C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.46C>G
  hgvsp: ENSP00000376285.2:p.Arg16Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.46C>G
  hgvsp: ENSP00000465726.1:p.Arg16Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.46C>G
  hgvsp: ENSP00000466422.1:p.Arg16Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.88C>G
  hgvsp: ENSP00000468547.1:p.Arg30Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.304C>G
  hgvsp: ENSP00000313681.3:p.Arg102Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.46C>G
  hgvsp: ENSP00000440970.1:p.Arg16Gly
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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 quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg102Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

17-74382102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382102
    reference: chr 17
allele count: 2
allele frequency: 2.43884593810209e-5
allele num: 82006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.305G>A
  hgvsp: ENSP00000313681.3:p.Arg102His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.47G>A
  hgvsp: ENSP00000465726.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.89G>A
  hgvsp: ENSP00000468547.1:p.Arg30His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.47G>A
  hgvsp: ENSP00000465002.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.47G>A
  hgvsp: ENSP00000376285.2:p.Arg16His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.47G>A
  hgvsp: ENSP00000440970.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.47G>A
  hgvsp: ENSP00000466422.1:p.Arg16His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1124G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21673
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg102His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-74382105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382105
    reference: chr 17
allele count: 1
allele frequency: 1.193288942984654e-5
allele num: 83802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.50T>C
  hgvsp: ENSP00000465002.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.50T>C
  hgvsp: ENSP00000465726.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1127T>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.308T>C
  hgvsp: ENSP00000313681.3:p.Val103Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.92T>C
  hgvsp: ENSP00000468547.1:p.Val31Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.50T>C
  hgvsp: ENSP00000376285.2:p.Val17Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.50T>C
  hgvsp: ENSP00000466422.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.2T>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.50T>C
  hgvsp: ENSP00000440970.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val103Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-74382119-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382119
    reference: chr 17
allele count: 2
allele frequency: 2.200752657408834e-5
allele num: 90878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.64A>C
  hgvsp: ENSP00000466422.1:p.Asn22His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.64A>C
  hgvsp: ENSP00000465726.1:p.Asn22His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.106A>C
  hgvsp: ENSP00000468547.1:p.Asn36His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.64A>C
  hgvsp: ENSP00000440970.1:p.Asn22His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.64A>C
  hgvsp: ENSP00000465002.1:p.Asn22His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.322A>C
  hgvsp: ENSP00000313681.3:p.Asn108His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1141A>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.16A>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.64A>C
  hgvsp: ENSP00000376285.2:p.Asn22His
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.75e1
  variant carriers: 1
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: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  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: 7.75e1
  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 depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn108His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-74382122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382122
    reference: chr 17
allele count: 1
allele frequency: 1.082204233582962e-5
allele num: 92404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.325C>T
  hgvsp: ENSP00000313681.3:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1144C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.67C>T
  hgvsp: ENSP00000376285.2:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.19C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.67C>T
  hgvsp: ENSP00000465002.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.109C>T
  hgvsp: ENSP00000468547.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.67C>T
  hgvsp: ENSP00000466422.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.67C>T
  hgvsp: ENSP00000465726.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.67C>T
  hgvsp: ENSP00000440970.1:p.Pro23Ser
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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: 7892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro109Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-74382127-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382127
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382127
    reference: chr 17
allele count: 2
allele frequency: 2.082162117142441e-5
allele num: 96054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.72C>T
  hgvsp: ENST00000588682.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.72C>T
  hgvsp: ENST00000592299.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.114C>T
  hgvsp: ENST00000590959.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.330C>T
  hgvsp: ENST00000323374.4:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.72C>T
  hgvsp: ENST00000392496.3:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.24C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.72C>T
  hgvsp: ENST00000545180.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.72C>T
  hgvsp: ENST00000590379.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1149C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29503
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  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: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33894
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg110Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

17-74382128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382128
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382128
    reference: chr 17
allele count: 2
allele frequency: 2.065006401519845e-5
allele num: 96852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.25G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.73G>A
  hgvsp: ENSP00000465726.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.115G>A
  hgvsp: ENSP00000468547.1:p.Gly39Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1150G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.73G>A
  hgvsp: ENSP00000465002.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.73G>A
  hgvsp: ENSP00000466422.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.73G>A
  hgvsp: ENSP00000440970.1:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.331G>A
  hgvsp: ENSP00000313681.3:p.Gly111Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.73G>A
  hgvsp: ENSP00000376285.2:p.Gly25Ser
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29991
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly111Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-74382135-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382135
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382135
    reference: chr 17
allele count: 1
allele frequency: 9.665571235260005e-6
allele num: 103460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.122A>C
  hgvsp: ENSP00000468547.1:p.Lys41Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1157A>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.80A>C
  hgvsp: ENSP00000376285.2:p.Lys27Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.32A>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.80A>C
  hgvsp: ENSP00000465726.1:p.Lys27Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.80A>C
  hgvsp: ENSP00000440970.1:p.Lys27Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.80A>C
  hgvsp: ENSP00000466422.1:p.Lys27Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.338A>C
  hgvsp: ENSP00000313681.3:p.Lys113Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.80A>C
  hgvsp: ENSP00000465002.1:p.Lys27Thr
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  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: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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: 40643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys113Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-74382136-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382136
    reference: chr 17
allele count: 1
allele frequency: 9.612981370042105e-6
allele num: 104026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.33G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.81G>C
  hgvsp: ENSP00000465002.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.339G>C
  hgvsp: ENSP00000313681.3:p.Lys113Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.81G>C
  hgvsp: ENSP00000440970.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.81G>C
  hgvsp: ENSP00000376285.2:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.123G>C
  hgvsp: ENSP00000468547.1:p.Lys41Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.81G>C
  hgvsp: ENSP00000465726.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.81G>C
  hgvsp: ENSP00000466422.1:p.Lys27Asn
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1158G>C
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys113Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

17-74382151-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382151
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382151
    reference: chr 17
allele count: 1
allele frequency: 8.930485103950847e-6
allele num: 111976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1173G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.96G>A
  hgvsp: ENST00000392496.3:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.96G>A
  hgvsp: ENST00000588682.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.96G>A
  hgvsp: ENST00000592299.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.96G>A
  hgvsp: ENST00000590379.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.96G>A
  hgvsp: ENST00000545180.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.138G>A
  hgvsp: ENST00000590959.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.354G>A
  hgvsp: ENST00000323374.4:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.48G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.75e1
  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: 1
genotype depth: GenotypeDepth
  all individuals: 38634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  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: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln118Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-74382153-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382153
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382153
    reference: chr 17
allele count: 1
allele frequency: 8.878786802571297e-6
allele num: 112628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.98T>A
  hgvsp: ENSP00000440970.1:p.Leu33His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.98T>A
  hgvsp: ENSP00000465726.1:p.Leu33His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.98T>A
  hgvsp: ENSP00000466422.1:p.Leu33His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.98T>A
  hgvsp: ENSP00000465002.1:p.Leu33His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.140T>A
  hgvsp: ENSP00000468547.1:p.Leu47His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.98T>A
  hgvsp: ENSP00000376285.2:p.Leu33His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.356T>A
  hgvsp: ENSP00000313681.3:p.Leu119His
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1175T>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.50T>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  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: 930
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu119His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-74382154-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382154
    reference: chr 17
allele count: 1
allele frequency: 8.854415697108148e-6
allele num: 112938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.141C>A
  hgvsp: ENST00000590959.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.51C>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.99C>A
  hgvsp: ENST00000545180.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.357C>A
  hgvsp: ENST00000323374.4:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.99C>A
  hgvsp: ENST00000592299.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.99C>A
  hgvsp: ENST00000588682.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.99C>A
  hgvsp: ENST00000392496.3:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.99C>A
  hgvsp: ENST00000590379.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1176C>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  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: 0
genotype depth: GenotypeDepth
  all individuals: 39119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  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: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu119Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

17-74382158-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382158
    reference: chr 17
allele count: 1
allele frequency: 8.765010079761592e-6
allele num: 114090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.103C>G
  hgvsp: ENSP00000465726.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.103C>G
  hgvsp: ENSP00000376285.2:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.103C>G
  hgvsp: ENSP00000466422.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.145C>G
  hgvsp: ENSP00000468547.1:p.Arg49Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.55C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.103C>G
  hgvsp: ENSP00000465002.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1180C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.361C>G
  hgvsp: ENSP00000313681.3:p.Arg121Gly
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.103C>G
  hgvsp: ENSP00000440970.1:p.Arg35Gly
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg121Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-74382160-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382160
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382160
    reference: chr 17
allele count: 4
allele frequency: 3.492412733336826e-5
allele num: 114534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.105G>C
  hgvsp: ENST00000588682.1:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.105G>C
  hgvsp: ENST00000590379.1:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.105G>C
  hgvsp: ENST00000592299.1:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.105G>C
  hgvsp: ENST00000392496.3:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1182G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.105G>C
  hgvsp: ENST00000545180.1:c.105G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.57G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.363G>C
  hgvsp: ENST00000323374.4:c.363G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.147G>C
  hgvsp: ENST00000590959.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg121Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

17-74382163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382163
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382163
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 114884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.150T>G
  hgvsp: ENSP00000468547.1:p.Ser50Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.60T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.108T>G
  hgvsp: ENSP00000465726.1:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1185T>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.108T>G
  hgvsp: ENSP00000465002.1:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.108T>G
  hgvsp: ENSP00000376285.2:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.108T>G
  hgvsp: ENSP00000440970.1:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.108T>G
  hgvsp: ENSP00000466422.1:p.Ser36Arg
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.366T>G
  hgvsp: ENSP00000313681.3:p.Ser122Arg
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 40125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser122Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-74382173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382173
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382173
    reference: chr 17
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.118C>G
  hgvsp: ENSP00000376285.2:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.160C>G
  hgvsp: ENSP00000468547.1:p.Pro54Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.118C>G
  hgvsp: ENSP00000466422.1:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.70C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.118C>G
  hgvsp: ENSP00000465002.1:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1195C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.118C>G
  hgvsp: ENSP00000465726.1:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.118C>G
  hgvsp: ENSP00000440970.1:p.Pro40Ala
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.376C>G
  hgvsp: ENSP00000313681.3:p.Pro126Ala
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  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: 1
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  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: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro126Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

17-74382188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382188
    reference: chr 17
allele count: 1
allele frequency: 8.542043940274029e-6
allele num: 117068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.175G>A
  hgvsp: ENSP00000468547.1:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.133G>A
  hgvsp: ENSP00000465726.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.133G>A
  hgvsp: ENSP00000466422.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.391G>A
  hgvsp: ENSP00000313681.3:p.Ala131Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.133G>A
  hgvsp: ENSP00000376285.2:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.133G>A
  hgvsp: ENSP00000440970.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.133G>A
  hgvsp: ENSP00000465002.1:p.Ala45Thr
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1210G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.85G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala131Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-74382189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382189
    reference: chr 17
allele count: 1
allele frequency: 8.54350351992345e-6
allele num: 117048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.134C>T
  hgvsp: ENSP00000466422.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.134C>T
  hgvsp: ENSP00000465726.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.134C>T
  hgvsp: ENSP00000440970.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.134C>T
  hgvsp: ENSP00000376285.2:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.86C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1211C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.134C>T
  hgvsp: ENSP00000465002.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.392C>T
  hgvsp: ENSP00000313681.3:p.Ala131Val
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.176C>T
  hgvsp: ENSP00000468547.1:p.Ala59Val
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  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: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala131Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

17-74382195-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382192
    reference: chr 17
allele count: 5
allele frequency: 4.268761205498164e-5
allele num: 117130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1220_1222delCCT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.95_97delCCT
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.143_145delCCT
  hgvsp: ENSP00000376285.2:p.Ser48del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.401_403delCCT
  hgvsp: ENSP00000313681.3:p.Ser134del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.143_145delCCT
  hgvsp: ENSP00000465002.1:p.Ser48del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.143_145delCCT
  hgvsp: ENSP00000440970.1:p.Ser48del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.143_145delCCT
  hgvsp: ENSP00000465726.1:p.Ser48del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.143_145delCCT
  hgvsp: ENSP00000466422.1:p.Ser48del
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.185_187delCCT
  hgvsp: ENSP00000468547.1:p.Ser62del
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  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: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser134del
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: TCTC
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-74382198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382198
    reference: chr 17
allele count: 7
allele frequency: 5.979226458931256e-5
allele num: 117072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.143C>T
  hgvsp: ENSP00000440970.1:p.Ser48Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.143C>T
  hgvsp: ENSP00000465002.1:p.Ser48Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.401C>T
  hgvsp: ENSP00000313681.3:p.Ser134Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.143C>T
  hgvsp: ENSP00000465726.1:p.Ser48Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.143C>T
  hgvsp: ENSP00000466422.1:p.Ser48Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.185C>T
  hgvsp: ENSP00000468547.1:p.Ser62Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.95C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.143C>T
  hgvsp: ENSP00000376285.2:p.Ser48Phe
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1220C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
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: 9
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser134Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

17-74382199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382199
    reference: chr 17
allele count: 180
allele frequency: 1.537515375153752e-3
allele num: 117072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.144C>T
  hgvsp: ENST00000545180.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.402C>T
  hgvsp: ENST00000323374.4:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.144C>T
  hgvsp: ENST00000592299.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.144C>T
  hgvsp: ENST00000392496.3:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.186C>T
  hgvsp: ENST00000590959.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1221C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.144C>T
  hgvsp: ENST00000588682.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.144C>T
  hgvsp: ENST00000590379.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.96C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39718
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser134Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-74382205-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382205
    reference: chr 17
allele count: 3
allele frequency: 2.564891761567662e-5
allele num: 116964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.150G>T
  hgvsp: ENST00000590379.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.150G>T
  hgvsp: ENST00000592299.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.150G>T
  hgvsp: ENST00000392496.3:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.150G>T
  hgvsp: ENST00000588682.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.102G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1227G>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.150G>T
  hgvsp: ENST00000545180.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.192G>T
  hgvsp: ENST00000590959.1:c.192G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.408G>T
  hgvsp: ENST00000323374.4:c.408G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr136Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-74382205-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382205
    reference: chr 17
allele count: 1
allele frequency: 8.54963920522554e-6
allele num: 116964
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.408G>C
  hgvsp: ENST00000323374.4:c.408G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.150G>C
  hgvsp: ENST00000592299.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.150G>C
  hgvsp: ENST00000588682.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.192G>C
  hgvsp: ENST00000590959.1:c.192G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1227G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.102G>C
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.150G>C
  hgvsp: ENST00000590379.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.150G>C
  hgvsp: ENST00000545180.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.150G>C
  hgvsp: ENST00000392496.3:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  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: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr136Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

17-74382206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382206
    reference: chr 17
allele count: 3
allele frequency: 2.567613830879836e-5
allele num: 116840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.151C>T
  hgvsp: ENST00000590379.1:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.409C>T
  hgvsp: ENST00000323374.4:c.409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.193C>T
  hgvsp: ENST00000590959.1:c.193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.151C>T
  hgvsp: ENST00000392496.3:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.151C>T
  hgvsp: ENST00000545180.1:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.151C>T
  hgvsp: ENST00000592299.1:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1228C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.103C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.151C>T
  hgvsp: ENST00000588682.1:c.151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39143
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14929
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu137Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-74382216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382216
    reference: chr 17
allele count: 1
allele frequency: 8.577506347354697e-6
allele num: 116584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.203C>G
  hgvsp: ENSP00000468547.1:p.Thr68Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.161C>G
  hgvsp: ENSP00000466422.1:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.113C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.161C>G
  hgvsp: ENSP00000376285.2:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.161C>G
  hgvsp: ENSP00000465002.1:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.419C>G
  hgvsp: ENSP00000313681.3:p.Thr140Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.161C>G
  hgvsp: ENSP00000465726.1:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.161C>G
  hgvsp: ENSP00000440970.1:p.Thr54Ser
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1238C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  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: 2086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 1
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: 14960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr140Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

17-74382227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382227
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382227
    reference: chr 17
allele count: 1
allele frequency: 8.630361612151549e-6
allele num: 115870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+9C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+9C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-74382229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382229
    reference: chr 17
allele count: 2
allele frequency: 1.728608470181504e-5
allele num: 115700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+11C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+11C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
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: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36701
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-74382231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382231
    reference: chr 17
allele count: 1
allele frequency: 8.664460117490079e-6
allele num: 115414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+13C>G
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+13C>G
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 1.25e1
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-74382231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382231
    reference: chr 17
allele count: 1
allele frequency: 8.664460117490079e-6
allele num: 115414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+13C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+13C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-74382239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382239
    reference: chr 17
allele count: 6
allele frequency: 5.244296827200419e-5
allele num: 114410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+21G>A
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+21G>A
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  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: 34719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-74382243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74382243
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74382243
    reference: chr 17
allele count: 2
allele frequency: 1.759788825340959e-5
allele num: 113650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465002
  ensembl transcript: ENST00000590379
  gene symbol: SPHK1
  hgvsc: ENST00000590379.1:c.163+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000313681
  ensembl transcript: ENST00000323374
  gene symbol: SPHK1
  hgvsc: ENST00000323374.4:c.421+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000465726
  ensembl transcript: ENST00000592299
  gene symbol: SPHK1
  hgvsc: ENST00000592299.1:c.163+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000591762
  gene symbol: SPHK1
  hgvsc: ENST00000591762.1:n.1240+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000468547
  ensembl transcript: ENST00000590959
  gene symbol: SPHK1
  hgvsc: ENST00000590959.1:c.205+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000466422
  ensembl transcript: ENST00000588682
  gene symbol: SPHK1
  hgvsc: ENST00000588682.1:c.163+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl transcript: ENST00000587167
  gene symbol: SPHK1
  hgvsc: ENST00000587167.1:n.115+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000440970
  ensembl transcript: ENST00000545180
  gene symbol: SPHK1
  hgvsc: ENST00000545180.1:c.163+25C>T
  variant of: http://identifiers.org/hgnc/11240
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000176170
  ensembl protein: ENSP00000376285
  ensembl transcript: ENST00000392496
  gene symbol: SPHK1
  hgvsc: ENST00000392496.3:c.163+25C>T
  variant of: http://identifiers.org/hgnc/11240
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  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: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 707
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.921e0

FS
type: SiteQuality
SIO_000300: 3.136e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 2.71612e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

GenotypeQuality
all individuals: 1634
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5677
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31445
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.75544e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 293
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9392
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3945
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 49
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 8.865248226950354e-4
allele num: 1128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.64e-2

DP
type: SiteQuality
SIO_000300: 3.04151e5

FS
type: SiteQuality
SIO_000300: 1.189e0

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: -8.222e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3604
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3637
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1665
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4864
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.0443e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 6.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 789
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3260
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29375
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 8.944543828264759e-4
allele num: 1118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.04109e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.556e0

MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.55e-2

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
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: 494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.393e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 7.4e0

DP
type: SiteQuality
SIO_000300: 3.02325e5

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 30125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
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: 488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.619999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 3.03134e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5732
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
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allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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VQSLOD
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SIO_000300: -1.889e0

ReadPosRankSum
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SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 3.14296e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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bin: 4.25e1
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 frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4608
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-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
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 4974
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-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
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.745200698080279e-4
allele num: 11460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 7.356e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

DP
type: SiteQuality
SIO_000300: 4.08925e5

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.557e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

African
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allele count: 1
allele frequency: 4.15973377703827e-4
allele num: 2404
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.203e0

VQSLOD
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DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ReadPosRankSum
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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
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 (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: 12894
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 6.426735218508997e-4
allele num: 1556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.74165e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13472
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 170
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East Asian
type: Population
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South Asian
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allele num: 4094
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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
allele num: 694
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MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-2

FS
type: SiteQuality
SIO_000300: 2.836e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.88e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 225
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 5.376344086021506e-3
allele num: 186
num of homozygotes: 0

African
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allele count: 7
allele frequency: 2.758077226162333e-3
allele num: 2538
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele 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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East Asian
type: Population
allele count: 108
allele frequency: 5.738575982996812e-2
allele num: 1882
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.130379207498935e-4
allele num: 14082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.0901e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.25e-2

QD
type: SiteQuality
SIO_000300: 1.249e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 1947
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1480
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9155
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 5.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2698
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 1.059322033898305e-3
allele num: 4720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

FS
type: SiteQuality
SIO_000300: 5.305e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

DP
type: SiteQuality
SIO_000300: 5.40614e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 2880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.623188405797101e-4
allele num: 2760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 2.938e1

VQSLOD
type: SiteQuality
SIO_000300: -2.866e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

FS
type: SiteQuality
SIO_000300: 1.342e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.48393e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1210
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 6.2297e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.1e1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 2806
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variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 341
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 6.28165e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 8.66e0

GenotypeQuality
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

QD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 6.61017e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 593
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1027
bin: 6.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.69683257918552e-3
allele num: 1768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 6.732336475090355e-4
allele num: 28222
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e0

FS
type: SiteQuality
SIO_000300: 5.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 7.24008e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
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GenotypeQuality
all individuals: 2277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.25e1
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GenotypeQuality
all individuals: 673
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1052
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29046
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.560408260147163e-4
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 7.36923e5

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.664e1

FS
type: SiteQuality
SIO_000300: 1.144e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4021
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 594
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2561
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 5.25e1
variant carriers: 1

African
type: Population
allele count: 5
allele frequency: 1.207729468599034e-3
allele num: 4140
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.702702702702703e-3
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.518763796909492e-4
allele num: 1812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 129
allele frequency: 4.441231150588722e-3
allele num: 29046
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 8.081896551724138e-4
allele num: 3712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.36923e5

FS
type: SiteQuality
SIO_000300: 1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.664e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29500
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 6.996268656716418e-4
allele num: 4288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.03e-2

FS
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 7.57497e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 5.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.297283038776049e-5
allele num: 30328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.590673575129534e-4
allele num: 3860
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 5.82e0

DP
type: SiteQuality
SIO_000300: 7.57497e5

VQSLOD
type: SiteQuality
SIO_000300: -4.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 7.521e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.713e1

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 7.69711e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
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bin: 9.75e1
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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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: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2274
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.295684113865932e-4
allele num: 4356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.125850340136054e-4
allele num: 4704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

DP
type: SiteQuality
SIO_000300: 8.14316e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.19e1

GenotypeQuality
all individuals: 263
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 570
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variant carriers: 1

GenotypeQuality
all individuals: 71
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variant carriers: 4

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 105

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 2310
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GenotypeQuality
all individuals: 21
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variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

African
type: Population
allele count: 115
allele frequency: 2.314814814814815e-2
allele num: 4968
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 2.048340843916428e-3
allele num: 4882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.145922746781116e-3
allele num: 466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

DP
type: SiteQuality
SIO_000300: 8.36236e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 263
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.286775631500742e-5
allele num: 10768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 8.36236e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 37
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.231908590774439e-4
allele num: 4726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 6.15e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.525e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.56462e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 965
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GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.401939105290015e-4
allele num: 11758
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38474
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.76793e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.202e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 355
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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: 78
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GenotypeQuality
all individuals: 19
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.552583214212783e-5
allele num: 39176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

DP
type: SiteQuality
SIO_000300: 8.91647e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.772e0

QD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-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
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

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

East Asian
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allele 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: 39922
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.401360544217687e-4
allele num: 2940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 6.091e0

MQ
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

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

East Asian
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allele 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 frequency: 1.77683013503909e-4
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 41522
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.934e1

MQ
type: SiteQuality
SIO_000300: 5.811e1

FS
type: SiteQuality
SIO_000300: 2.602e0

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 9.18679e5

BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 6.457862447529867e-4
allele num: 6194
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: 41692
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

FS
type: SiteQuality
SIO_000300: 4.206e0

QD
type: SiteQuality
SIO_000300: 1.14e1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5360
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41700
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

ClippingRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 7.848061528802385e-5
allele num: 12742
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 count: 0
allele frequency: 0.0e0
allele num: 42682
num of homozygotes: 0

Latino
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

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

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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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 2.2766596849103e-5
allele num: 43924
num of homozygotes: 0

South Asian
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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allele num: 7050
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African
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.661129568106312e-3
allele num: 602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.96702e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

QD
type: SiteQuality
SIO_000300: 8.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 4.534e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.971248163297724e-5
allele num: 50362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.731e-1

QD
type: SiteQuality
SIO_000300: 1.716e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
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SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.068729e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.481e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.953125e-5
allele num: 51200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14030
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4452
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 1.805e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.086881e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.757703291748084e-5
allele num: 53224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

DP
type: SiteQuality
SIO_000300: 1.127321e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 5.254e0

QD
type: SiteQuality
SIO_000300: 1.007e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.390820584144645e-4
allele num: 14380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.138648e6

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 2.431e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14822
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.240079365079365e-4
allele num: 8064
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MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57662
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.725854183481302e-5
allele num: 14868
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5164
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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allele num: 10014
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VQSLOD
type: SiteQuality
SIO_000300: -3.141e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.22407e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10824
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.616919445073246e-5
allele num: 61846
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
type: Population
allele count: 0
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Other
type: Population
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South Asian
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VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.221896383186706e-4
allele num: 8184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62194
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

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

VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.5e-3

BaseQRankSum
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FS
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QD
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ClippingRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.32287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-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
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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: 15624
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10896
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East Asian
type: Population
allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.057e0

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.9e-2

QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.327039e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.062022090059473e-4
allele num: 9416
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10996
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
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SIO_000300: 1.67e0

InbreedingCoeff
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SIO_000300: 1.8e-3

MQ
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -1.175e0

FS
type: SiteQuality
SIO_000300: 5.131e0

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 1.342689e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053962900505902e-4
allele num: 9488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.749540877715154e-5
allele num: 63164
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

DP
type: SiteQuality
SIO_000300: 1.347469e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 4.829e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63348
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.605e0

QD
type: SiteQuality
SIO_000300: 2.584e1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.351746e6

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-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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GenotypeQuality
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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
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.562988433885589e-5
allele num: 63980
num of homozygotes: 0

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

South Asian
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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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Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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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 frequency: 1.553229163430773e-5
allele num: 64382
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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MQRankSum
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SIO_000300: 1.55e0

MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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Other
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DP
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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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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Other
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allele count: 0
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African
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South Asian
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allele frequency: 6.282196255811031e-5
allele num: 15918
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Latino
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.209830161145093e-5
allele num: 64414
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.376158e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.735e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

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

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
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GenotypeQuality
all individuals: 245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.5e0
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GenotypeQuality
all individuals: 401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51030
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.318796011555308e-5
allele num: 64386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.824567596187787e-5
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.375506e6

QD
type: SiteQuality
SIO_000300: 1.079e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.757e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50849
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 243
bin: 5.25e1
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GenotypeQuality
all individuals: 254
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GenotypeQuality
all individuals: 214
bin: 9.75e1
variant carriers: 179

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 3.25e1
variant carriers: 1

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.075351213282248e-3
allele num: 6264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.300403225806451e-5
allele num: 15872
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.062146892655367e-4
allele num: 11328
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.029690971520905e-4
allele num: 9902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 154
allele frequency: 2.391452885272377e-3
allele num: 64396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.379572e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50582
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variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3659
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variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.549455750118315e-4
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 3.012e0

DP
type: SiteQuality
SIO_000300: 1.372772e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

GenotypeQuality
all individuals: 486
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 3659
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variant carriers: 0

GenotypeQuality
all individuals: 459
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GenotypeQuality
all individuals: 50582
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variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183151916706105e-4
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.372772e6

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 3.012e0

QD
type: SiteQuality
SIO_000300: 1.424e1

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 679
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variant carriers: 0

GenotypeQuality
all individuals: 580
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variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 49846
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.550295857988166e-4
allele num: 8450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.672e0

DP
type: SiteQuality
SIO_000300: 1.370383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.75e1
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GenotypeQuality
all individuals: 362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 49672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558992267398354e-5
allele num: 64144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.363288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.75e1
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GenotypeQuality
all individuals: 3410
bin: 6.75e1
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GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566023552994237e-5
allele num: 63856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.08e0

VQSLOD
type: SiteQuality
SIO_000300: -5.157e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.441e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.345688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.5e0
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GenotypeQuality
all individuals: 47527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.75e1
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GenotypeQuality
all individuals: 594
bin: 7.25e1
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GenotypeQuality
all individuals: 39
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3381
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.289490651192779e-4
allele num: 15510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.342239e6

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

GenotypeQuality
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.25e1
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GenotypeQuality
all individuals: 538
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570598397989634e-5
allele num: 63670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 9.596e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.338382e6

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.483402489626556e-5
allele num: 15424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.338382e6

FS
type: SiteQuality
SIO_000300: 9.596e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: -1.183e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 45084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.749240121580547e-5
allele num: 63168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.699784017278618e-4
allele num: 11112
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.247e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

VQSLOD
type: SiteQuality
SIO_000300: -1.631e0

DP
type: SiteQuality
SIO_000300: 1.31366e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

GenotypeQuality
all individuals: 618
bin: 7.5e0
variant carriers: 0