1-48569526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48569526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48569526
    reference: chr 1
allele count: 1
allele frequency: 1.428571428571429e-2
allele num: 70
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269709
  ensembl protein: ENSP00000470342
  ensembl transcript: ENST00000601108
  gene symbol: AL109659.1
  hgvsc: ENST00000601108.1:c.221C>T
  hgvsp: ENSP00000470342.1:p.Ala74Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000452503
  gene symbol: SKINTL
  hgvsc: ENST00000452503.1:n.410-1904G>A
  variant of: http://identifiers.org/hgnc/33993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000604015
  gene symbol: SKINTL
  hgvsc: ENST00000604015.1:n.42-7264G>A
  variant of: http://identifiers.org/hgnc/33993
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala74Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-48569623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48569623
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48569623
    reference: chr 1
allele count: 1
allele frequency: 2.272727272727273e-2
allele num: 44
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000604015
  gene symbol: SKINTL
  hgvsc: ENST00000604015.1:n.42-7361C>T
  variant of: http://identifiers.org/hgnc/33993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000269709
  ensembl protein: ENSP00000470342
  ensembl transcript: ENST00000601108
  gene symbol: AL109659.1
  hgvsc: ENST00000601108.1:c.318G>A
  hgvsp: ENST00000601108.1:c.318G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000452503
  gene symbol: SKINTL
  hgvsc: ENST00000452503.1:n.410-2001C>T
  variant of: http://identifiers.org/hgnc/33993
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu106Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

1-48569709-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48569709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48569710
    reference: chr 1
allele count: 2
allele frequency: 2.0e-1
allele num: 10
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000452503
  gene symbol: SKINTL
  hgvsc: ENST00000452503.1:n.410-2088dupA
  variant of: http://identifiers.org/hgnc/33993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000269709
  ensembl protein: ENSP00000470342
  ensembl transcript: ENST00000601108
  gene symbol: AL109659.1
  hgvsc: ENST00000601108.1:c.414dupT
  hgvsp: ENSP00000470342.1:p.Pro139SerfsTer5
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000604015
  gene symbol: SKINTL
  hgvsc: ENST00000604015.1:n.42-7448dupA
  variant of: http://identifiers.org/hgnc/33993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro139SerfsTer5
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

1-48569709-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48569709
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48569708
    reference: chr 1
allele count: 2
allele frequency: 2.0e-1
allele num: 10
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000604015
  gene symbol: SKINTL
  hgvsc: ENST00000604015.1:n.42-7448delA
  variant of: http://identifiers.org/hgnc/33993
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000269709
  ensembl protein: ENSP00000470342
  ensembl transcript: ENST00000601108
  gene symbol: AL109659.1
  hgvsc: ENST00000601108.1:c.414delT
  hgvsp: ENSP00000470342.1:p.Pro139LeufsTer3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000452503
  gene symbol: SKINTL
  hgvsc: ENST00000452503.1:n.410-2088delA
  variant of: http://identifiers.org/hgnc/33993
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro139LeufsTer3
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: GT
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48569889-T-TACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48569889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48569892
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: TACC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000452503
  gene symbol: SKINTL
  hgvsc: ENST00000452503.1:n.410-2268_410-2267insGGT
  variant of: http://identifiers.org/hgnc/33993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000242267
  ensembl transcript: ENST00000604015
  gene symbol: SKINTL
  hgvsc: ENST00000604015.1:n.42-7628_42-7627insGGT
  variant of: http://identifiers.org/hgnc/33993
canonical: false
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD

1-48688363-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688363
    reference: chr 1
allele count: 17
allele frequency: 1.458201094508586e-4
allele num: 116582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-46C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-46C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-46C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-46C>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1867
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 4006
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 30
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genotype depth: GenotypeDepth
  all individuals: 19073
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genotype depth: GenotypeDepth
  all individuals: 64
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genotype depth: GenotypeDepth
  all individuals: 1409
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genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7425
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 68
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 317
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genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1697
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genotype quality: GenotypeQuality
  all individuals: 497
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-48688363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688363
    reference: chr 1
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-46C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-46C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2852
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4054
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genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-48688369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688369
    reference: chr 1
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-40G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-40G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 285
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2896
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genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-48688370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688370
    reference: chr 1
allele count: 1
allele frequency: 8.545401719334827e-6
allele num: 117022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-39C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-39C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

1-48688371-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688371
    reference: chr 1
allele count: 1
allele frequency: 8.523114687031229e-6
allele num: 117328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-38G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-38G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-38G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-38G>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-48688376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688376
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688376
    reference: chr 1
allele count: 10411
allele frequency: 8.801995265471763e-2
allele num: 118280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-33A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-33A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-33A>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 26000
  bin: 2.25e1
  variant carriers: 1510
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 1285
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 1751
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.75e1
  variant carriers: 820
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.75e1
  variant carriers: 1921
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 179
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 835
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 7.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 32841
  bin: 6.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 11134
  bin: 9.75e1
  variant carriers: 9428
num of homozygotes: 559
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48688384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688384
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688384
    reference: chr 1
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-25G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.6G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-25G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-25G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29136
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-48688385-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688385
    reference: chr 1
allele count: 5
allele frequency: 4.189920726699851e-5
allele num: 119334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-24C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-24C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-24C>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.7C>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29230
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS

1-48688385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688385
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688385
    reference: chr 1
allele count: 1
allele frequency: 8.379841453399702e-6
allele num: 119334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-24C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.7C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-24C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 406
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genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 258
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 41965
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 802
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genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1687
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genotype quality: GenotypeQuality
  all individuals: 382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-48688386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688386
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688386
    reference: chr 1
allele count: 30
allele frequency: 2.511426992817319e-4
allele num: 119454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-23C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-23C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.8C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29409
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 396
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42339
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
  all individuals: 268
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 634
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
  all individuals: 1150
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genotype quality: GenotypeQuality
  all individuals: 2217
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  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 852
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-48688387-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688387
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688387
    reference: chr 1
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-22T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.9T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-22T>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
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genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 42858
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 857
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genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-48688399-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688399
    reference: chr 1
allele count: 3
allele frequency: 2.494636531457367e-5
allele num: 120258
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-10A>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-10A>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-10A>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.21A>C
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19914
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-48688399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688399
    reference: chr 1
allele count: 2
allele frequency: 1.663091020971578e-5
allele num: 120258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.-10A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.-10A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.21A>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-48688415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688415
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688415
    reference: chr 1
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.5A>G
  hgvsp: ENSP00000399991.2:p.Lys3Glu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.7A>G
  hgvsp: ENSP00000431900.1:p.Lys3Glu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.7A>G
  hgvsp: ENSP00000404982.1:p.Lys3Glu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.7A>G
  hgvsp: ENSP00000401730.2:p.Lys3Glu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.37A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.-15A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.7A>G
  hgvsp: ENSP00000236495.5:p.Lys3Glu
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys3Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-48688421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688421
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688421
    reference: chr 1
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.13C>T
  hgvsp: ENST00000438567.2:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.11C>T
  hgvsp: ENST00000441260.2:c.11C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.13C>T
  hgvsp: ENST00000425816.1:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.13C>T
  hgvsp: ENST00000236495.5:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.-9C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.13C>T
  hgvsp: ENST00000533824.1:c.13C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.43C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu5Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48688435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688435
    reference: chr 1
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.57G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.27G>T
  hgvsp: ENST00000438567.2:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.6G>T
  hgvsp: ENST00000420136.2:c.6G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.27G>T
  hgvsp: ENST00000236495.5:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.25G>T
  hgvsp: ENST00000441260.2:c.25G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.27G>T
  hgvsp: ENST00000533824.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.27G>T
  hgvsp: ENST00000425816.1:c.27G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly9Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-48688449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688449
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688449
    reference: chr 1
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.41G>C
  hgvsp: ENSP00000404982.1:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.20G>C
  hgvsp: ENSP00000408881.2:p.Gly7Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.41G>C
  hgvsp: ENSP00000236495.5:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.39G>C
  hgvsp: ENSP00000399991.2:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.71G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.41G>C
  hgvsp: ENSP00000401730.2:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.41G>C
  hgvsp: ENSP00000431900.1:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly14Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

1-48688453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688453
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688453
    reference: chr 1
allele count: 52
allele frequency: 4.302427562012874e-4
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.43C>T
  hgvsp: ENST00000441260.2:c.43C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.24C>T
  hgvsp: ENST00000420136.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.75C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.45C>T
  hgvsp: ENST00000236495.5:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.45C>T
  hgvsp: ENST00000533824.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.45C>T
  hgvsp: ENST00000425816.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.45C>T
  hgvsp: ENST00000438567.2:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21074
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29472
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp15Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-48688454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688454
    reference: chr 1
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.46G>A
  hgvsp: ENSP00000236495.5:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.44G>A
  hgvsp: ENSP00000399991.2:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.25G>A
  hgvsp: ENSP00000408881.2:p.Gly9Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.46G>A
  hgvsp: ENSP00000431900.1:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.76G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.46G>A
  hgvsp: ENSP00000401730.2:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.46G>A
  hgvsp: ENSP00000404982.1:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly16Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-48688457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688457
    reference: chr 1
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.28G>A
  hgvsp: ENSP00000408881.2:p.Val10Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.49G>A
  hgvsp: ENSP00000401730.2:p.Val17Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.79G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.47G>A
  hgvsp: ENSP00000399991.2:p.Val17Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.49G>A
  hgvsp: ENSP00000236495.5:p.Val17Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.49G>A
  hgvsp: ENSP00000404982.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.49G>A
  hgvsp: ENSP00000431900.1:p.Val17Ile
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val17Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-48688458-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688458
    reference: chr 1
allele count: 4
allele frequency: 3.309176346007479e-5
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.50T>A
  hgvsp: ENSP00000236495.5:p.Val17Asp
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.80T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.50T>A
  hgvsp: ENSP00000404982.1:p.Val17Asp
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.50T>A
  hgvsp: ENSP00000401730.2:p.Val17Asp
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.50T>A
  hgvsp: ENSP00000431900.1:p.Val17Asp
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.48T>A
  hgvsp: ENSP00000399991.2:p.Val17Asp
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.29T>A
  hgvsp: ENSP00000408881.2:p.Val10Asp
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7073
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val17Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-48688458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688458
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688458
    reference: chr 1
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.50T>C
  hgvsp: ENSP00000431900.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.50T>C
  hgvsp: ENSP00000236495.5:p.Val17Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.48T>C
  hgvsp: ENSP00000399991.2:p.Val17Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.80T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.50T>C
  hgvsp: ENSP00000401730.2:p.Val17Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.50T>C
  hgvsp: ENSP00000404982.1:p.Val17Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.29T>C
  hgvsp: ENSP00000408881.2:p.Val10Ala
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val17Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-48688472-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688472
    reference: chr 1
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.64G>T
  hgvsp: ENSP00000401730.2:p.Ala22Ser
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.62G>T
  hgvsp: ENSP00000399991.2:p.Ala22Ser
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.64G>T
  hgvsp: ENSP00000404982.1:p.Ala22Ser
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.94G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.64G>T
  hgvsp: ENSP00000236495.5:p.Ala22Ser
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.43G>T
  hgvsp: ENSP00000408881.2:p.Ala15Ser
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.64G>T
  hgvsp: ENSP00000431900.1:p.Ala22Ser
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala22Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

1-48688474-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688474
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688474
    reference: chr 1
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.45T>G
  hgvsp: ENST00000420136.2:c.45T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.66T>G
  hgvsp: ENST00000438567.2:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.66T>G
  hgvsp: ENST00000236495.5:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.64T>G
  hgvsp: ENST00000441260.2:c.64T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.66T>G
  hgvsp: ENST00000533824.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.96T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.66T>G
  hgvsp: ENST00000425816.1:c.66T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala22Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-48688487-CTGGACTCCAGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688487
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688475
    reference: chr 1
allele count: 21
allele frequency: 1.7384393781354e-4
allele num: 120798
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsp: ENSP00000236495.5:p.Asp28_Val31del
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsp: ENSP00000431900.1:p.Asp28_Val31del
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsp: ENSP00000399991.2:p.Asp28_Val31del
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsp: ENSP00000404982.1:p.Asp28_Val31del
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsp: ENSP00000408881.2:p.Asp21_Val24del
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsp: ENSP00000401730.2:p.Asp28_Val31del
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29019
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp28_Val31del
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: CTGGACTCCAGAG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-48688507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688507
    reference: chr 1
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.97G>A
  hgvsp: ENST00000441260.2:c.97G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.99G>A
  hgvsp: ENST00000425816.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.99G>A
  hgvsp: ENST00000533824.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.99G>A
  hgvsp: ENST00000438567.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.129G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.99G>A
  hgvsp: ENST00000236495.5:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.78G>A
  hgvsp: ENST00000420136.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu33Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-48688510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688510
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688510
    reference: chr 1
allele count: 10
allele frequency: 8.29655195300833e-5
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.132C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.102C>T
  hgvsp: ENST00000425816.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.102C>T
  hgvsp: ENST00000533824.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.81C>T
  hgvsp: ENST00000420136.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.102C>T
  hgvsp: ENST00000236495.5:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.102C>T
  hgvsp: ENST00000438567.2:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.100C>T
  hgvsp: ENST00000441260.2:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21644
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His34His
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-48688511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688511
    reference: chr 1
allele count: 3
allele frequency: 2.489213408562894e-5
allele num: 120520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.101G>A
  hgvsp: ENSP00000399991.2:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.103G>A
  hgvsp: ENSP00000236495.5:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.103G>A
  hgvsp: ENSP00000431900.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.133G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.103G>A
  hgvsp: ENSP00000404982.1:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.82G>A
  hgvsp: ENSP00000408881.2:p.Ala28Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.103G>A
  hgvsp: ENSP00000401730.2:p.Ala35Thr
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21661
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala35Thr
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: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP

1-48688515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688515
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688515
    reference: chr 1
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.105A>G
  hgvsp: ENSP00000399991.2:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.137A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.107A>G
  hgvsp: ENSP00000401730.2:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.107A>G
  hgvsp: ENSP00000404982.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.86A>G
  hgvsp: ENSP00000408881.2:p.Tyr29Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.107A>G
  hgvsp: ENSP00000431900.1:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.107A>G
  hgvsp: ENSP00000236495.5:p.Tyr36Cys
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr36Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-48688516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688516
    reference: chr 1
allele count: 2
allele frequency: 1.660550306371532e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.108C>T
  hgvsp: ENST00000236495.5:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.106C>T
  hgvsp: ENST00000441260.2:c.106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.108C>T
  hgvsp: ENST00000533824.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.108C>T
  hgvsp: ENST00000425816.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.108C>T
  hgvsp: ENST00000438567.2:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.87C>T
  hgvsp: ENST00000420136.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.138C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr36Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-48688523-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688523
    reference: chr 1
allele count: 2
allele frequency: 1.661957786272229e-5
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.94A>C
  hgvsp: ENSP00000408881.2:p.Ser32Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.115A>C
  hgvsp: ENSP00000404982.1:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.115A>C
  hgvsp: ENSP00000401730.2:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.115A>C
  hgvsp: ENSP00000236495.5:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.113A>C
  hgvsp: ENSP00000399991.2:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.145A>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.115A>C
  hgvsp: ENSP00000431900.1:p.Ser39Arg
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser39Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-48688525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688525
    reference: chr 1
allele count: 5
allele frequency: 4.156137784279825e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.147C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.115C>T
  hgvsp: ENST00000441260.2:c.115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.117C>T
  hgvsp: ENST00000533824.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.96C>T
  hgvsp: ENST00000420136.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.117C>T
  hgvsp: ENST00000236495.5:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.117C>T
  hgvsp: ENST00000438567.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.117C>T
  hgvsp: ENST00000425816.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21682
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser39Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

1-48688526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688526
    reference: chr 1
allele count: 5
allele frequency: 4.156275976724854e-5
allele num: 120300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.118G>A
  hgvsp: ENSP00000401730.2:p.Val40Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.116G>A
  hgvsp: ENSP00000399991.2:p.Val40Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.97G>A
  hgvsp: ENSP00000408881.2:p.Val33Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.118G>A
  hgvsp: ENSP00000431900.1:p.Val40Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.118G>A
  hgvsp: ENSP00000236495.5:p.Val40Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.118G>A
  hgvsp: ENSP00000404982.1:p.Val40Met
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.148G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val40Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-48688542-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688542
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688542
    reference: chr 1
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.134T>A
  hgvsp: ENSP00000431900.1:p.Phe45Tyr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.134T>A
  hgvsp: ENSP00000236495.5:p.Phe45Tyr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.134T>A
  hgvsp: ENSP00000401730.2:p.Phe45Tyr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.132T>A
  hgvsp: ENSP00000399991.2:p.Phe45Tyr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.134T>A
  hgvsp: ENSP00000404982.1:p.Phe45Tyr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.164T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.113T>A
  hgvsp: ENSP00000408881.2:p.Phe38Tyr
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe45Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-48688549-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688549
    reference: chr 1
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.141C>G
  hgvsp: ENSP00000404982.1:p.Phe47Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.139C>G
  hgvsp: ENSP00000399991.2:p.Phe47Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.141C>G
  hgvsp: ENSP00000236495.5:p.Phe47Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.141C>G
  hgvsp: ENSP00000431900.1:p.Phe47Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.120C>G
  hgvsp: ENSP00000408881.2:p.Phe40Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.141C>G
  hgvsp: ENSP00000401730.2:p.Phe47Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.171C>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe47Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-48688549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688549
    reference: chr 1
allele count: 4
allele frequency: 3.351992759695639e-5
allele num: 119332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.141C>T
  hgvsp: ENST00000425816.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.139C>T
  hgvsp: ENST00000441260.2:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.171C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.141C>T
  hgvsp: ENST00000236495.5:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.141C>T
  hgvsp: ENST00000533824.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.120C>T
  hgvsp: ENST00000420136.2:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.141C>T
  hgvsp: ENST00000438567.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe47Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48688550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688550
    reference: chr 1
allele count: 9
allele frequency: 7.550969041026932e-5
allele num: 119190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.142G>A
  hgvsp: ENSP00000401730.2:p.Val48Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.142G>A
  hgvsp: ENSP00000236495.5:p.Val48Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.142G>A
  hgvsp: ENSP00000431900.1:p.Val48Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.172G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.142G>A
  hgvsp: ENSP00000404982.1:p.Val48Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.140G>A
  hgvsp: ENSP00000399991.2:p.Val48Ile
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.121G>A
  hgvsp: ENSP00000408881.2:p.Val41Ile
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val48Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-48688553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688553
    reference: chr 1
allele count: 1
allele frequency: 8.39898540256337e-6
allele num: 119062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.145A>G
  hgvsp: ENSP00000404982.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.145A>G
  hgvsp: ENSP00000401730.2:p.Ile49Val
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.124A>G
  hgvsp: ENSP00000408881.2:p.Ile42Val
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.175A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.145A>G
  hgvsp: ENSP00000236495.5:p.Ile49Val
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.145A>G
  hgvsp: ENSP00000431900.1:p.Ile49Val
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.143A>G
  hgvsp: ENSP00000399991.2:p.Ile49Val
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile49Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

1-48688564-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688564
    reference: chr 1
allele count: 3
allele frequency: 2.540478287378904e-5
allele num: 118088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.156G>T
  hgvsp: ENST00000425816.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.156G>T
  hgvsp: ENST00000236495.5:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.156G>T
  hgvsp: ENST00000438567.2:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.186G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.154G>T
  hgvsp: ENST00000441260.2:c.154G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.135G>T
  hgvsp: ENST00000420136.2:c.135G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.156G>T
  hgvsp: ENST00000533824.1:c.156G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly52Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-48688576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688576
    reference: chr 1
allele count: 3
allele frequency: 2.573163618897314e-5
allele num: 116588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+6T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+6T>C
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 9.75e1
  variant carriers: 1
hgvs: c.162+6T>C
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-48688580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688580
    reference: chr 1
allele count: 1
allele frequency: 8.635131167642436e-6
allele num: 115806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+10C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+10C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-48688581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688581
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688581
    reference: chr 1
allele count: 10
allele frequency: 8.644088308006154e-5
allele num: 115686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+11C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+11C>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-48688584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688584
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688584
    reference: chr 1
allele count: 1
allele frequency: 8.684324793747287e-6
allele num: 115150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+14G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+14G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48688592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688592
    reference: chr 1
allele count: 2
allele frequency: 1.762362976278594e-5
allele num: 113484
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+22G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+22G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-48688593-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688593
    reference: chr 1
allele count: 3
allele frequency: 2.645735955551636e-5
allele num: 113390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+23G>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+23G>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12979
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14747
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/1-48688598-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688598
    reference: chr 1
allele count: 4
allele frequency: 3.562395354636458e-5
allele num: 112284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+28C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+28C>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

1-48688604-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688604
    reference: chr 1
allele count: 46
allele frequency: 4.140935851502439e-4
allele num: 111086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+34A>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+34A>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 17006
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14311
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15008
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-48688606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688606
    reference: chr 1
allele count: 1
allele frequency: 9.043717329571148e-6
allele num: 110574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+36G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+36G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-48688609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688609
    reference: chr 1
allele count: 3
allele frequency: 2.726578689060966e-5
allele num: 110028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+39G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+39G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 6.75e1
  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: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-48688615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688615
    reference: chr 1
allele count: 1
allele frequency: 9.21574048474795e-6
allele num: 108510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+45G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+45G>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16887
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-48688620-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48688620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48688620
    reference: chr 1
allele count: 1
allele frequency: 9.436811112788767e-6
allele num: 105968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.162+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.160+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.141+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.192+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.162+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.162+50T>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.162+50T>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-48690352-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690352
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690350
    reference: chr 1
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.163-39_163-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.161-39_161-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.193-39_193-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.163-39_163-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.163-39_163-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.142-39_142-38delAG
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.163-39_163-38delAG
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9359
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: CAG
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

1-48690363-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690363
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690363
    reference: chr 1
allele count: 8
allele frequency: 6.593587735926811e-5
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.163-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.163-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.193-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.163-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.161-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.142-33G>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.163-33G>C
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

1-48690374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690374
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690374
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.161-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.163-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.163-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.142-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.193-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.163-22A>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.163-22A>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-48690381-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690381
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.161-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.163-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.163-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.142-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.193-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.163-15C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.163-15C>A
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-48690382-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690382
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.193-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.163-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.163-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.163-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.163-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.142-14T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.161-14T>G
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-48690396-T-TCGTCCATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690404
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: TCGTCCATC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.167_174dupCCATCCGT
  hgvsp: ENSP00000431900.1:p.Ala59ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.197_204dupCCATCCGT
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.165_172dupCCATCCGT
  hgvsp: ENSP00000399991.2:p.Ala59ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.167_174dupCCATCCGT
  hgvsp: ENSP00000236495.5:p.Ala59ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.167_174dupCCATCCGT
  hgvsp: ENSP00000404982.1:p.Ala59ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.167_174dupCCATCCGT
  hgvsp: ENSP00000401730.2:p.Ala59ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.146_153dupCCATCCGT
  hgvsp: ENSP00000408881.2:p.Ala52ProfsTer19
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala59ProfsTer19
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-48690397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690397
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690397
    reference: chr 1
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.194C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.164C>T
  hgvsp: ENSP00000401730.2:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.143C>T
  hgvsp: ENSP00000408881.2:p.Ser48Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.164C>T
  hgvsp: ENSP00000236495.5:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.164C>T
  hgvsp: ENSP00000404982.1:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.164C>T
  hgvsp: ENSP00000431900.1:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.162C>T
  hgvsp: ENSP00000399991.2:p.Ser55Leu
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser55Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-48690398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690398
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.144G>A
  hgvsp: ENST00000420136.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.195G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.163G>A
  hgvsp: ENST00000441260.2:c.163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.165G>A
  hgvsp: ENST00000533824.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.165G>A
  hgvsp: ENST00000425816.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.165G>A
  hgvsp: ENST00000236495.5:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.165G>A
  hgvsp: ENST00000438567.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32074
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: c.165G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-48690398-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690398
    reference: chr 1
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.165G>T
  hgvsp: ENST00000236495.5:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.165G>T
  hgvsp: ENST00000425816.1:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.163G>T
  hgvsp: ENST00000441260.2:c.163G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.165G>T
  hgvsp: ENST00000533824.1:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.144G>T
  hgvsp: ENST00000420136.2:c.144G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.165G>T
  hgvsp: ENST00000438567.2:c.165G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.195G>T
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32074
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: c.165G>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

1-48690399-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690399
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690399
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.166T>G
  hgvsp: ENSP00000404982.1:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.196T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.166T>G
  hgvsp: ENSP00000431900.1:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.166T>G
  hgvsp: ENSP00000236495.5:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.164T>G
  hgvsp: ENSP00000399991.2:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.145T>G
  hgvsp: ENSP00000408881.2:p.Ser49Ala
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.166T>G
  hgvsp: ENSP00000401730.2:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser56Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-48690404-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690404
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.169C>A
  hgvsp: ENST00000441260.2:c.169C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.171C>A
  hgvsp: ENST00000533824.1:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.150C>A
  hgvsp: ENST00000420136.2:c.150C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.201C>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.171C>A
  hgvsp: ENST00000236495.5:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.171C>A
  hgvsp: ENST00000438567.2:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.171C>A
  hgvsp: ENST00000425816.1:c.171C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile57Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-48690405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690405
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690405
    reference: chr 1
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.172C>T
  hgvsp: ENSP00000431900.1:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.151C>T
  hgvsp: ENSP00000408881.2:p.Arg51Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.202C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.172C>T
  hgvsp: ENSP00000236495.5:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.170C>T
  hgvsp: ENSP00000399991.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.172C>T
  hgvsp: ENSP00000401730.2:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.172C>T
  hgvsp: ENSP00000404982.1:p.Arg58Cys
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg58Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-48690406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690406
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690406
    reference: chr 1
allele count: 15
allele frequency: 1.235605199426679e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.152G>A
  hgvsp: ENSP00000408881.2:p.Arg51His
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.171G>A
  hgvsp: ENSP00000399991.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.203G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.173G>A
  hgvsp: ENSP00000404982.1:p.Arg58His
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.173G>A
  hgvsp: ENSP00000236495.5:p.Arg58His
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.173G>A
  hgvsp: ENSP00000431900.1:p.Arg58His
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.173G>A
  hgvsp: ENSP00000401730.2:p.Arg58His
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32078
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg58His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-48690407-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690407
    reference: chr 1
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.174T>G
  hgvsp: ENST00000425816.1:c.174T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.153T>G
  hgvsp: ENST00000420136.2:c.153T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.174T>G
  hgvsp: ENST00000236495.5:c.174T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.174T>G
  hgvsp: ENST00000438567.2:c.174T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.204T>G
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.174T>G
  hgvsp: ENST00000533824.1:c.174T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.172T>G
  hgvsp: ENST00000441260.2:c.172T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32068
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg58Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

1-48690414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690414
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690414
    reference: chr 1
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.211C>T
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.181C>T
  hgvsp: ENSP00000431900.1:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.181C>T
  hgvsp: ENSP00000404982.1:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.181C>T
  hgvsp: ENSP00000401730.2:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.179C>T
  hgvsp: ENSP00000399991.2:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.160C>T
  hgvsp: ENSP00000408881.2:p.Arg54Ter
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.181C>T
  hgvsp: ENSP00000236495.5:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg61Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-48690419-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690419
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690419
    reference: chr 1
allele count: 10
allele frequency: 8.237232289950576e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.186G>A
  hgvsp: ENST00000236495.5:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.184G>A
  hgvsp: ENST00000441260.2:c.184G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.216G>A
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.186G>A
  hgvsp: ENST00000533824.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.165G>A
  hgvsp: ENST00000420136.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.186G>A
  hgvsp: ENST00000425816.1:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.186G>A
  hgvsp: ENST00000438567.2:c.186G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly62Gly
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: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-48690424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48690424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48690424
    reference: chr 1
allele count: 5
allele frequency: 4.118548294097296e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000431900
  ensembl transcript: ENST00000533824
  gene symbol: SLC5A9
  hgvsc: ENST00000533824.1:c.191T>C
  hgvsp: ENSP00000431900.1:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000117834
  ensembl transcript: ENST00000493837
  gene symbol: SLC5A9
  hgvsc: ENST00000493837.2:n.221T>C
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000408881
  ensembl transcript: ENST00000420136
  gene symbol: SLC5A9
  hgvsc: ENST00000420136.2:c.170T>C
  hgvsp: ENSP00000408881.2:p.Ile57Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000236495
  ensembl transcript: ENST00000236495
  gene symbol: SLC5A9
  hgvsc: ENST00000236495.5:c.191T>C
  hgvsp: ENSP00000236495.5:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000401730
  ensembl transcript: ENST00000438567
  gene symbol: SLC5A9
  hgvsc: ENST00000438567.2:c.191T>C
  hgvsp: ENSP00000401730.2:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000404982
  ensembl transcript: ENST00000425816
  gene symbol: SLC5A9
  hgvsc: ENST00000425816.1:c.191T>C
  hgvsp: ENSP00000404982.1:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/22146
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000117834
  ensembl protein: ENSP00000399991
  ensembl transcript: ENST00000441260
  gene symbol: SLC5A9
  hgvsc: ENST00000441260.2:c.189T>C
  hgvsp: ENSP00000399991.2:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/22146
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile64Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 89
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 2.777777777777778e-2
allele num: 36
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.076e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.105e-1

DP
type: SiteQuality
SIO_000300: 9.633e3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.214e0

QD
type: SiteQuality
SIO_000300: 1.036e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.571428571428571e-2
allele num: 28
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

DP
type: SiteQuality
SIO_000300: 7.015e3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.045e-1

FS
type: SiteQuality
SIO_000300: 1.871e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.149e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.5e-1
allele num: 8
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 6.88e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 1.549e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.455e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 5.908e3

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.5e-1
allele num: 8
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.549e0

DP
type: SiteQuality
SIO_000300: 5.908e3

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.455e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 2.5e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.119e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.168e3

QD
type: SiteQuality
SIO_000300: 2.45e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 1060
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64346
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.528227256382596e-3
allele num: 11124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.391582e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

GenotypeQuality
all individuals: 23033
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2579
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.329915179136599e-5
allele num: 15798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.391582e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 1.248e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.398e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5848
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.771e0

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.431517e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

QD
type: SiteQuality
SIO_000300: 6.87e0

GenotypeQuality
all individuals: 2407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1697
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548850752741466e-5
allele num: 64564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

DP
type: SiteQuality
SIO_000300: 1.440865e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
SIO_000300: 3.468e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 32430
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.936550491510277e-5
allele num: 11190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 1.456626e6

QD
type: SiteQuality
SIO_000300: 1.399e1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5052
bin: 6.75e1
variant carriers: 40

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 31

GenotypeQuality
all individuals: 1434
bin: 3.25e1
variant carriers: 10

Latino
type: Population
allele count: 599
allele frequency: 5.314052519517388e-2
allele num: 11272
num of homozygotes: 22

European (Finnish)
type: Population
allele count: 570
allele frequency: 9.134615384615384e-2
allele num: 6240
num of homozygotes: 24

Other
type: Population
allele count: 96
allele frequency: 1.085972850678733e-1
allele num: 884
num of homozygotes: 5

African
type: Population
allele count: 273
allele frequency: 2.689125295508274e-2
allele num: 10152
num of homozygotes: 14

South Asian
type: Population
allele count: 1241
allele frequency: 7.70137768400149e-2
allele num: 16114
num of homozygotes: 69

European (Non-Finnish)
type: Population
allele count: 7631
allele frequency: 1.169358546078642e-1
allele num: 65258
num of homozygotes: 425

East Asian
type: Population
allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.688e0

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.576151e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6717
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519664458087654e-5
allele num: 65804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.962e1

DP
type: SiteQuality
SIO_000300: 1.538533e6

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6707
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.388274530454625e-4
allele num: 11394
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

DP
type: SiteQuality
SIO_000300: 1.543061e6

QD
type: SiteQuality
SIO_000300: 1.237e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 6.34e0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65820
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

FS
type: SiteQuality
SIO_000300: 6.34e0

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 1.543061e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6769
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.956181533646322e-4
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.428068471530897e-4
allele num: 65896
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.052446939133485e-3
allele num: 11402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.299e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.546383e6

GenotypeQuality
all individuals: 2190
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6801
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516116316443798e-5
allele num: 65958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.175e0

DP
type: SiteQuality
SIO_000300: 1.548917e6

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 4.286e0

QD
type: SiteQuality
SIO_000300: 5.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.594e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.917720287881735e-4
allele num: 10282
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

DP
type: SiteQuality
SIO_000300: 1.568985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 299
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017774692941425e-5
allele num: 66274
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.568985e6

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 2.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

GenotypeQuality
all individuals: 44753
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 871
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 7070
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.579002e6

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 158
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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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variant carriers: 0

GenotypeQuality
all individuals: 866
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variant carriers: 0

GenotypeQuality
all individuals: 44787
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.078e0

DP
type: SiteQuality
SIO_000300: 1.581027e6

QD
type: SiteQuality
SIO_000300: 1.09e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 8.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.143e0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
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
all individuals: 378
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 148
bin: 5.25e1
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GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.584725e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e0

FS
type: SiteQuality
SIO_000300: 3.469e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 9.43e0

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

GenotypeQuality
all individuals: 1715
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variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
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GenotypeQuality
all individuals: 7065
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GenotypeQuality
all individuals: 44801
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GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 1823
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GenotypeQuality
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 851
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GenotypeQuality
all individuals: 376
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.647e0

FS
type: SiteQuality
SIO_000300: 2.389e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.586078e6

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 1710
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GenotypeQuality
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GenotypeQuality
all individuals: 2239
bin: 9.75e1
variant carriers: 52

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506128334534967e-5
allele num: 66576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

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

African
type: Population
allele count: 42
allele frequency: 4.060324825986079e-3
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.207429265752473e-4
allele num: 11522
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.588417e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-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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variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
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GenotypeQuality
all individuals: 839
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 1.587281e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 6.917e0

QD
type: SiteQuality
SIO_000300: 1.163e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-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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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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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: 10348
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.31e0

DP
type: SiteQuality
SIO_000300: 1.586759e6

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 2.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.62962962962963e-4
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.086e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 1.586974e6

FS
type: SiteQuality
SIO_000300: 8.039e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 115
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 8.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.18e-1

DP
type: SiteQuality
SIO_000300: 1.586974e6

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 1.587753e6

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.093e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2194
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.218e0

DP
type: SiteQuality
SIO_000300: 1.587798e6

FS
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

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
all individuals: 1679
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737619461337967e-4
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.854224251892801e-4
allele num: 66568
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 3.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.588277e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.121e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2189
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 4.043e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 1.586369e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -5.867e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.031e0

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
all individuals: 1742
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GenotypeQuality
all individuals: 206
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variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.967427277477791e-4
allele num: 11482
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008966720828068e-5
allele num: 66468
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.586768e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-2

FS
type: SiteQuality
SIO_000300: 2.558e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

QD
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SIO_000300: 1.295e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514129224472599e-5
allele num: 66458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.391e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.086e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

FS
type: SiteQuality
SIO_000300: 2.906e0

DP
type: SiteQuality
SIO_000300: 1.58634e6

GenotypeQuality
all individuals: 44561
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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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: 3.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
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variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 4.571e0

DP
type: SiteQuality
SIO_000300: 1.585208e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

DP
type: SiteQuality
SIO_000300: 1.585205e6

GenotypeQuality
all individuals: 963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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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
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012501882813677e-5
allele num: 66390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.94e-2

DP
type: SiteQuality
SIO_000300: 1.583093e6

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-1

FS
type: SiteQuality
SIO_000300: 4.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.023e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 1603
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variant carriers: 0

GenotypeQuality
all individuals: 359
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variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 1007
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GenotypeQuality
all individuals: 2188
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 336
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variant carriers: 0

GenotypeQuality
all individuals: 804
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variant carriers: 0

GenotypeQuality
all individuals: 44246
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.026092982614722e-5
allele num: 66378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.2e1

DP
type: SiteQuality
SIO_000300: 1.582121e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 1700
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GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 1593
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variant carriers: 0

GenotypeQuality
all individuals: 804
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variant carriers: 0

GenotypeQuality
all individuals: 44353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.532843196336024e-5
allele num: 66376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.581237e6

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 790
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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
all individuals: 352
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1621
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variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.150818058801821e-5
allele num: 16258
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.589e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -1.827e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.036e0

MQRankSum
type: SiteQuality
SIO_000300: -1.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.5681e6

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 469
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GenotypeQuality
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GenotypeQuality
all individuals: 2002
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variant carriers: 0

GenotypeQuality
all individuals: 299
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GenotypeQuality
all individuals: 780
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GenotypeQuality
all individuals: 281
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GenotypeQuality
all individuals: 42937
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.869e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

FS
type: SiteQuality
SIO_000300: 2.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.560565e6

VQSLOD
type: SiteQuality
SIO_000300: -9.073e-1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 469
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GenotypeQuality
all individuals: 442
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GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 1573
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GenotypeQuality
all individuals: 780
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GenotypeQuality
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GenotypeQuality
all individuals: 416
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GenotypeQuality
all individuals: 355
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-5
allele num: 65980
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.560565e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 2.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.073e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 506
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 774
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GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 9.75e1
variant carriers: 9

South Asian
type: Population
allele count: 1
allele frequency: 6.178942165101334e-5
allele num: 16184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.101665604805679e-5
allele num: 65922
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.948937828883259e-4
allele num: 10262
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.557835e6

FS
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.176e0

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
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GenotypeQuality
all individuals: 1479
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518556763651825e-5
allele num: 65852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.553064e6

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

QD
type: SiteQuality
SIO_000300: 8.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1388
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.587717151945192e-5
allele num: 65392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.586e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.526008e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.078e0

QD
type: SiteQuality
SIO_000300: 7.8e0

GenotypeQuality
all individuals: 36943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 584
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64654
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.900177349885989e-4
allele num: 15788
num of homozygotes: 1

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.769e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.473643e6

GenotypeQuality
all individuals: 34002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
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GenotypeQuality
all individuals: 668
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GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555016483174721e-5
allele num: 64308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

DP
type: SiteQuality
SIO_000300: 1.444396e6

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.227e0

QD
type: SiteQuality
SIO_000300: 6.32e0

GenotypeQuality
all individuals: 1400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 6988
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variant carriers: 0

GenotypeQuality
all individuals: 396
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variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.390593047034765e-4
allele num: 15648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.935e0

DP
type: SiteQuality
SIO_000300: 1.43691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 5091
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 513
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variant carriers: 0

GenotypeQuality
all individuals: 1755
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variant carriers: 0

GenotypeQuality
all individuals: 396
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GenotypeQuality
all individuals: 3272
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GenotypeQuality
all individuals: 2165
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 653
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GenotypeQuality
all individuals: 1199
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GenotypeQuality
all individuals: 1158
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.175995595522114e-5
allele num: 10898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.229e0

FS
type: SiteQuality
SIO_000300: 4.046e0

DP
type: SiteQuality
SIO_000300: 1.409489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22036
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 2163
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.165057762304162e-5
allele num: 63190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

DP
type: SiteQuality
SIO_000300: 1.293066e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
all individuals: 10520
bin: 2.25e1
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
all individuals: 1078
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GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.368559115608019e-5
allele num: 10674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.165658931906676e-5
allele num: 63178
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.291683e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

FS
type: SiteQuality
SIO_000300: 3.653e0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 599
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GenotypeQuality
all individuals: 4819
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GenotypeQuality
all individuals: 820
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GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 171
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GenotypeQuality
all individuals: 7040
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GenotypeQuality
all individuals: 388
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variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62654
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.9838026414154e-4
allele num: 8026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 2.105e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 1.247695e6

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 9.75e1
variant carriers: 45

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 4.362276692978811e-3
allele num: 9628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62086
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.840983291722681e-4
allele num: 10414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 8.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.194077e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeQuality
all individuals: 8525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.746727836999056e-5
allele num: 14822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.499e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.174171e6

GenotypeQuality
all individuals: 11548
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.879318196603995e-5
allele num: 61484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

DP
type: SiteQuality
SIO_000300: 1.160325e6

FS
type: SiteQuality
SIO_000300: 1.225e0

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 330
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7811
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7692
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647120832784293e-5
allele num: 60712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.135318e6

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

QD
type: SiteQuality
SIO_000300: 5.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
type: SiteQuality
SIO_000300: -4.501e-1

GenotypeQuality
all individuals: 3509
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7880
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1620
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GenotypeQuality
all individuals: 296
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.682595234890295e-5
allele num: 59432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

DP
type: SiteQuality
SIO_000300: 1.125639e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.52e1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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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
all individuals: 141
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GenotypeQuality
all individuals: 6905
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 2.603302e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.727e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

FS
type: SiteQuality
SIO_000300: 1.988e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

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

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

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

East Asian
type: Population
allele count: 8
allele frequency: 9.244280101687081e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.575e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 4.807e0

DP
type: SiteQuality
SIO_000300: 2.609755e6

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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 2.611841e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.77e-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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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.612509e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.195e0

QD
type: SiteQuality
SIO_000300: 1.115e1

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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.385e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.321e0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.612542e6

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
all individuals: 4069
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

MQ
type: SiteQuality
SIO_000300: 5.165e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.47e0

DP
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SIO_000300: 2.613122e6

MQRankSum
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FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

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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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

DP
type: SiteQuality
SIO_000300: 2.613407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

FS
type: SiteQuality
SIO_000300: 1.938e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-1

DP
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SIO_000300: 2.613315e6

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

QD
type: SiteQuality
SIO_000300: 1.581e1

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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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.613315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.094e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.581e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

VQSLOD
type: SiteQuality
SIO_000300: -9.224e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.02e0

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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bin: 8.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11578
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 10
allele frequency: 1.498531439189594e-4
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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South Asian
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allele num: 16508
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8654
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Latino
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allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 2.613568e6

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32069
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 2.613725e6

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

QD
type: SiteQuality
SIO_000300: 1.225e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 7845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3804
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32070
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 4072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 8.650519031141869e-4
allele num: 10404
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.216e1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.614153e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.327e0