2-228564006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564006
    reference: chr 2
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+166A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.425A>G
  hgvsp: ENSP00000397393.1:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.425A>G
  hgvsp: ENSP00000258403.3:p.Tyr142Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.413A>G
  hgvsp: ENSP00000445519.1:p.Tyr138Cys
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14117
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr142Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

2-228564010-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564010
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+162G>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.409G>C
  hgvsp: ENSP00000445519.1:p.Gly137Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.421G>C
  hgvsp: ENSP00000397393.1:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.421G>C
  hgvsp: ENSP00000258403.3:p.Gly141Arg
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 14137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5945
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22145
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly141Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-228564010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564010
    reference: chr 2
allele count: 457
allele frequency: 3.769507407040813e-3
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+162G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.421G>A
  hgvsp: ENSP00000258403.3:p.Gly141Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.421G>A
  hgvsp: ENSP00000397393.1:p.Gly141Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.409G>A
  hgvsp: ENSP00000445519.1:p.Gly137Ser
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10541
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 14137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly141Ser
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

2-228564013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564013
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+159A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.418A>G
  hgvsp: ENSP00000397393.1:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.406A>G
  hgvsp: ENSP00000445519.1:p.Ser136Gly
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.418A>G
  hgvsp: ENSP00000258403.3:p.Ser140Gly
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser140Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-228564019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564019
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+153A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.400A>G
  hgvsp: ENSP00000445519.1:p.Arg134Gly
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.412A>G
  hgvsp: ENSP00000258403.3:p.Arg138Gly
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.412A>G
  hgvsp: ENSP00000397393.1:p.Arg138Gly
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg138Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-228564020-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564021
    reference: chr 2
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+151dupA
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.410dupA
  hgvsp: ENSP00000258403.3:p.Arg138GlufsTer87
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.410dupA
  hgvsp: ENSP00000397393.1:p.Arg138GlufsTer87
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.398dupA
  hgvsp: ENSP00000445519.1:p.Arg134GlufsTer87
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg138GlufsTer87
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-228564021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564021
    reference: chr 2
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.398A>G
  hgvsp: ENSP00000445519.1:p.Gln133Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.410A>G
  hgvsp: ENSP00000258403.3:p.Gln137Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.410A>G
  hgvsp: ENSP00000397393.1:p.Gln137Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+151A>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln137Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-228564021-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564021
    reference: chr 2
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+151A>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.410A>C
  hgvsp: ENSP00000397393.1:p.Gln137Pro
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.410A>C
  hgvsp: ENSP00000258403.3:p.Gln137Pro
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.398A>C
  hgvsp: ENSP00000445519.1:p.Gln133Pro
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21908
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln137Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-228564031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564031
    reference: chr 2
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.400G>A
  hgvsp: ENSP00000258403.3:p.Glu134Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.400G>A
  hgvsp: ENSP00000397393.1:p.Glu134Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+141G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.388G>A
  hgvsp: ENSP00000445519.1:p.Glu130Lys
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21907
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu134Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-228564032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564032
    reference: chr 2
allele count: 4
allele frequency: 3.297826732183491e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.399C>T
  hgvsp: ENST00000425817.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+140C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.399C>T
  hgvsp: ENST00000258403.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.387C>T
  hgvsp: ENST00000541617.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro133Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-228564032-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564032
    reference: chr 2
allele count: 45
allele frequency: 3.710055073706427e-4
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.399C>G
  hgvsp: ENST00000258403.3:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.399C>G
  hgvsp: ENST00000425817.1:c.399C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.387C>G
  hgvsp: ENST00000541617.1:c.387C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+140C>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro133Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-228564041-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564041
    reference: chr 2
allele count: 41
allele frequency: 3.37971511474545e-4
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.390G>T
  hgvsp: ENST00000456524.1:c.390G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.390G>T
  hgvsp: ENST00000258403.3:c.390G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.390G>T
  hgvsp: ENST00000425817.1:c.390G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+131G>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.378G>T
  hgvsp: ENST00000541617.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21918
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val130Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-228564044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564044
    reference: chr 2
allele count: 12
allele frequency: 9.891686037885158e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.375C>T
  hgvsp: ENST00000541617.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.387C>T
  hgvsp: ENST00000425817.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.387C>T
  hgvsp: ENST00000456524.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.387C>T
  hgvsp: ENST00000258403.3:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+128C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser129Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-228564047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564047
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.384C>T
  hgvsp: ENST00000425817.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.384C>T
  hgvsp: ENST00000456524.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+125C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.384C>T
  hgvsp: ENST00000258403.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.372C>T
  hgvsp: ENST00000541617.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr128Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-228564048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564048
    reference: chr 2
allele count: 15
allele frequency: 1.236297700486277e-4
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.371A>G
  hgvsp: ENSP00000445519.1:p.Tyr124Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+124A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.383A>G
  hgvsp: ENSP00000258403.3:p.Tyr128Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.383A>G
  hgvsp: ENSP00000399001.1:p.Tyr128Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.383A>G
  hgvsp: ENSP00000397393.1:p.Tyr128Cys
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14828
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr128Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-228564050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564050
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.381A>G
  hgvsp: ENSP00000399001.1:p.Ile127Met
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.381A>G
  hgvsp: ENSP00000258403.3:p.Ile127Met
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+122A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.381A>G
  hgvsp: ENSP00000397393.1:p.Ile127Met
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.369A>G
  hgvsp: ENSP00000445519.1:p.Ile123Met
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile127Met
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: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-228564054-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564054
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.365A>C
  hgvsp: ENSP00000445519.1:p.Tyr122Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.377A>C
  hgvsp: ENSP00000397393.1:p.Tyr126Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.377A>C
  hgvsp: ENSP00000399001.1:p.Tyr126Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.377A>C
  hgvsp: ENSP00000258403.3:p.Tyr126Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+118A>C
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr126Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

2-228564058-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564058
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.373G>C
  hgvsp: ENSP00000258403.3:p.Ala125Pro
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.361G>C
  hgvsp: ENSP00000445519.1:p.Ala121Pro
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.373G>C
  hgvsp: ENSP00000399001.1:p.Ala125Pro
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+114G>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.373G>C
  hgvsp: ENSP00000397393.1:p.Ala125Pro
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala125Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-228564058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564058
    reference: chr 2
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.373G>A
  hgvsp: ENSP00000397393.1:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+114G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.361G>A
  hgvsp: ENSP00000445519.1:p.Ala121Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.373G>A
  hgvsp: ENSP00000399001.1:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.373G>A
  hgvsp: ENSP00000258403.3:p.Ala125Thr
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala125Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-228564058-CGTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564055
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+111_259+113delTAC
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.370_372delTAC
  hgvsp: ENSP00000399001.1:p.Tyr124del
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.370_372delTAC
  hgvsp: ENSP00000258403.3:p.Tyr124del
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.370_372delTAC
  hgvsp: ENSP00000397393.1:p.Tyr124del
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.358_360delTAC
  hgvsp: ENSP00000445519.1:p.Tyr120del
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr124del
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: CGTA
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-228564059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564059
    reference: chr 2
allele count: 6
allele frequency: 4.944783253667381e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.372C>T
  hgvsp: ENST00000425817.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.372C>T
  hgvsp: ENST00000456524.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.372C>T
  hgvsp: ENST00000258403.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.360C>T
  hgvsp: ENST00000541617.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+113C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21892
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr124Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-228564065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564065
    reference: chr 2
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.366C>T
  hgvsp: ENST00000456524.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.366C>T
  hgvsp: ENST00000425817.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.354C>T
  hgvsp: ENST00000541617.1:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.366C>T
  hgvsp: ENST00000258403.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+107C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala122Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

2-228564071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564071
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564071
    reference: chr 2
allele count: 48
allele frequency: 3.955044329455193e-4
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.360G>A
  hgvsp: ENST00000456524.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+101G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.360G>A
  hgvsp: ENST00000258403.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.360G>A
  hgvsp: ENST00000425817.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.348G>A
  hgvsp: ENST00000541617.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21911
  bin: 9.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu120Glu
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-228564074-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564074
    reference: chr 2
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.357C>T
  hgvsp: ENST00000258403.3:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.345C>T
  hgvsp: ENST00000541617.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.357C>T
  hgvsp: ENST00000425817.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+98C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.357C>T
  hgvsp: ENST00000456524.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala119Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-228564074-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564074
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.357C>A
  hgvsp: ENST00000258403.3:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.345C>A
  hgvsp: ENST00000541617.1:c.345C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+98C>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.357C>A
  hgvsp: ENST00000456524.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.357C>A
  hgvsp: ENST00000425817.1:c.357C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala119Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-228564075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564075
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564075
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.356C>T
  hgvsp: ENSP00000258403.3:p.Ala119Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.356C>T
  hgvsp: ENSP00000397393.1:p.Ala119Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.344C>T
  hgvsp: ENSP00000445519.1:p.Ala115Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+97C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.356C>T
  hgvsp: ENSP00000399001.1:p.Ala119Val
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala119Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

2-228564076-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564076
    reference: chr 2
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.355G>A
  hgvsp: ENSP00000397393.1:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.355G>A
  hgvsp: ENSP00000399001.1:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+96G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.343G>A
  hgvsp: ENSP00000445519.1:p.Ala115Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.355G>A
  hgvsp: ENSP00000258403.3:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala119Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-228564080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564080
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.351C>T
  hgvsp: ENST00000258403.3:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+92C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.351C>T
  hgvsp: ENST00000456524.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.351C>T
  hgvsp: ENST00000425817.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.339C>T
  hgvsp: ENST00000541617.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr117Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-228564082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564082
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.337A>G
  hgvsp: ENSP00000445519.1:p.Thr113Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.349A>G
  hgvsp: ENSP00000399001.1:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.349A>G
  hgvsp: ENSP00000397393.1:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.349A>G
  hgvsp: ENSP00000258403.3:p.Thr117Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+90A>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6066
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21903
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr117Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-228564085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564085
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564085
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+87G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.346G>A
  hgvsp: ENSP00000258403.3:p.Val116Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.334G>A
  hgvsp: ENSP00000445519.1:p.Val112Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.346G>A
  hgvsp: ENSP00000397393.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.346G>A
  hgvsp: ENSP00000399001.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15016
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val116Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

2-228564086-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564086
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+86G>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.333G>C
  hgvsp: ENSP00000445519.1:p.Met111Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.345G>C
  hgvsp: ENSP00000399001.1:p.Met115Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.345G>C
  hgvsp: ENSP00000397393.1:p.Met115Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.345G>C
  hgvsp: ENSP00000258403.3:p.Met115Ile
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met115Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-228564087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564087
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.344T>C
  hgvsp: ENSP00000397393.1:p.Met115Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.344T>C
  hgvsp: ENSP00000258403.3:p.Met115Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+85T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.332T>C
  hgvsp: ENSP00000445519.1:p.Met111Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.344T>C
  hgvsp: ENSP00000399001.1:p.Met115Thr
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met115Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-228564094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564094
    reference: chr 2
allele count: 7
allele frequency: 5.765967611736215e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+78T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.337T>C
  hgvsp: ENSP00000399001.1:p.Tyr113His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.337T>C
  hgvsp: ENSP00000258403.3:p.Tyr113His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.337T>C
  hgvsp: ENSP00000397393.1:p.Tyr113His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.325T>C
  hgvsp: ENSP00000445519.1:p.Tyr109His
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21902
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr113His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-228564096-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564096
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564096
    reference: chr 2
allele count: 19
allele frequency: 1.565048351756973e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.323T>C
  hgvsp: ENSP00000445519.1:p.Phe108Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.335T>C
  hgvsp: ENSP00000399001.1:p.Phe112Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+76T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.335T>C
  hgvsp: ENSP00000397393.1:p.Phe112Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.335T>C
  hgvsp: ENSP00000258403.3:p.Phe112Ser
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 11059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe112Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-228564098-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564098
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.333C>A
  hgvsp: ENSP00000399001.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.333C>A
  hgvsp: ENSP00000397393.1:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.321C>A
  hgvsp: ENSP00000445519.1:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.333C>A
  hgvsp: ENSP00000258403.3:p.Phe111Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+74C>A
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe111Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

2-228564106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564106
    reference: chr 2
allele count: 14
allele frequency: 1.15315552773339e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.325G>A
  hgvsp: ENSP00000397393.1:p.Val109Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.325G>A
  hgvsp: ENSP00000258403.3:p.Val109Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.325G>A
  hgvsp: ENSP00000399001.1:p.Val109Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.313G>A
  hgvsp: ENSP00000445519.1:p.Val105Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+66G>A
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21898
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val109Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-228564112-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564112
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564112
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.307C>A
  hgvsp: ENSP00000445519.1:p.Gln103Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.319C>A
  hgvsp: ENSP00000397393.1:p.Gln107Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.319C>A
  hgvsp: ENSP00000258403.3:p.Gln107Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.319C>A
  hgvsp: ENSP00000399001.1:p.Gln107Lys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+60C>A
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln107Lys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-228564115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564115
    reference: chr 2
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*341A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+57A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.304A>G
  hgvsp: ENSP00000445519.1:p.Met102Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.316A>G
  hgvsp: ENSP00000399001.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.316A>G
  hgvsp: ENSP00000258403.3:p.Met106Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.316A>G
  hgvsp: ENSP00000397393.1:p.Met106Val
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met106Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-228564122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564122
    reference: chr 2
allele count: 815
allele frequency: 6.712901950448076e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.309G>A
  hgvsp: ENST00000456524.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.297G>A
  hgvsp: ENST00000541617.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+50G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.309G>A
  hgvsp: ENST00000258403.3:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.309G>A
  hgvsp: ENST00000425817.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 769
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val103Val
num of homozygotes: 8
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-228564123-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564123
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.296T>A
  hgvsp: ENSP00000445519.1:p.Val99Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.308T>A
  hgvsp: ENSP00000399001.1:p.Val103Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.308T>A
  hgvsp: ENSP00000258403.3:p.Val103Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*333T>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.308T>A
  hgvsp: ENSP00000397393.1:p.Val103Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+49T>A
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21823
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val103Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-228564126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564126
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.293G>A
  hgvsp: ENSP00000445519.1:p.Gly98Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.305G>A
  hgvsp: ENSP00000258403.3:p.Gly102Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.305G>A
  hgvsp: ENSP00000397393.1:p.Gly102Glu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+46G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.305G>A
  hgvsp: ENSP00000399001.1:p.Gly102Glu
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly102Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-228564140-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564140
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564140
    reference: chr 2
allele count: 9
allele frequency: 7.415708117728487e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*316G>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.291G>C
  hgvsp: ENST00000425817.1:c.291G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.279G>C
  hgvsp: ENST00000541617.1:c.279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.291G>C
  hgvsp: ENST00000258403.3:c.291G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.291G>C
  hgvsp: ENST00000456524.1:c.291G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+32G>C
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu97Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-228564154-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564154
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.265A>T
  hgvsp: ENSP00000445519.1:p.Thr89Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.277A>T
  hgvsp: ENSP00000399001.1:p.Thr93Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+18A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.277A>T
  hgvsp: ENSP00000397393.1:p.Thr93Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.277A>T
  hgvsp: ENSP00000258403.3:p.Thr93Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*302A>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr93Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-228564156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564156
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564156
    reference: chr 2
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.263T>C
  hgvsp: ENSP00000445519.1:p.Ile88Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*300T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.275T>C
  hgvsp: ENSP00000397393.1:p.Ile92Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.275T>C
  hgvsp: ENSP00000399001.1:p.Ile92Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.275T>C
  hgvsp: ENSP00000258403.3:p.Ile92Thr
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+16T>C
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15211
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile92Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-228564157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564157
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.274A>G
  hgvsp: ENSP00000397393.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*299A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.262A>G
  hgvsp: ENSP00000445519.1:p.Ile88Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.274A>G
  hgvsp: ENSP00000399001.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.274A>G
  hgvsp: ENSP00000258403.3:p.Ile92Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+15A>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile92Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

2-228564166-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564166
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564166
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.265A>C
  hgvsp: ENSP00000397393.1:p.Ser89Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.253A>C
  hgvsp: ENSP00000445519.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+6A>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*290A>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.265A>C
  hgvsp: ENSP00000399001.1:p.Ser89Arg
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.265A>C
  hgvsp: ENSP00000258403.3:p.Ser89Arg
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser89Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-228564171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564171
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.260G>A
  hgvsp: ENSP00000258403.3:p.Gly87Asp
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.260G>A
  hgvsp: ENSP00000399001.1:p.Gly87Asp
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.260G>A
  hgvsp: ENSP00000397393.1:p.Gly87Asp
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259+1G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.248G>A
  hgvsp: ENSP00000445519.1:p.Gly83Asp
  variant of: http://identifiers.org/hgnc/16266
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.259+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-228564172-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564172
    reference: chr 2
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.259G>T
  hgvsp: ENSP00000386298.1:p.Gly87Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.247G>T
  hgvsp: ENSP00000445519.1:p.Gly83Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.259G>T
  hgvsp: ENSP00000397393.1:p.Gly87Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*284G>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.259G>T
  hgvsp: ENSP00000258403.3:p.Gly87Cys
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.259G>T
  hgvsp: ENSP00000399001.1:p.Gly87Cys
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly87Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-228564177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564177
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.254T>C
  hgvsp: ENSP00000386298.1:p.Leu85Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*279T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.254T>C
  hgvsp: ENSP00000399001.1:p.Leu85Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.242T>C
  hgvsp: ENSP00000445519.1:p.Leu81Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.254T>C
  hgvsp: ENSP00000258403.3:p.Leu85Ser
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.254T>C
  hgvsp: ENSP00000397393.1:p.Leu85Ser
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu85Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-228564188-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564188
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564188
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.231A>C
  hgvsp: ENST00000541617.1:c.231A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.243A>C
  hgvsp: ENST00000456524.1:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*268A>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.243A>C
  hgvsp: ENST00000258403.3:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.243A>C
  hgvsp: ENST00000409287.1:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.243A>C
  hgvsp: ENST00000425817.1:c.243A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro81Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-228564189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564189
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564189
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.242C>T
  hgvsp: ENSP00000386298.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.242C>T
  hgvsp: ENSP00000399001.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.230C>T
  hgvsp: ENSP00000445519.1:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*267C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.242C>T
  hgvsp: ENSP00000258403.3:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.242C>T
  hgvsp: ENSP00000397393.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro81Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-228564198-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564198
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.233G>T
  hgvsp: ENSP00000386298.1:p.Arg78Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.233G>T
  hgvsp: ENSP00000399001.1:p.Arg78Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.233G>T
  hgvsp: ENSP00000397393.1:p.Arg78Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*258G>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.233G>T
  hgvsp: ENSP00000258403.3:p.Arg78Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.221G>T
  hgvsp: ENSP00000445519.1:p.Arg74Leu
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg78Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-228564198-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564198
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.233G>A
  hgvsp: ENSP00000399001.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.233G>A
  hgvsp: ENSP00000397393.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.233G>A
  hgvsp: ENSP00000258403.3:p.Arg78His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.233G>A
  hgvsp: ENSP00000386298.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.221G>A
  hgvsp: ENSP00000445519.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg78His
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

2-228564203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564203
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*253T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.228T>C
  hgvsp: ENST00000409287.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.216T>C
  hgvsp: ENST00000541617.1:c.216T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.228T>C
  hgvsp: ENST00000456524.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.228T>C
  hgvsp: ENST00000258403.3:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.228T>C
  hgvsp: ENST00000425817.1:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  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: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21814
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr76Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-228564210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564210
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.209C>T
  hgvsp: ENSP00000445519.1:p.Thr70Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.221C>T
  hgvsp: ENSP00000386298.1:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.221C>T
  hgvsp: ENSP00000258403.3:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.221C>T
  hgvsp: ENSP00000399001.1:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.221C>T
  hgvsp: ENSP00000397393.1:p.Thr74Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr74Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

2-228564214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564214
    reference: chr 2
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.217C>T
  hgvsp: ENSP00000399001.1:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*242C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.217C>T
  hgvsp: ENSP00000258403.3:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.217C>T
  hgvsp: ENSP00000397393.1:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.205C>T
  hgvsp: ENSP00000445519.1:p.Leu69Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.217C>T
  hgvsp: ENSP00000386298.1:p.Leu73Phe
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21813
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu73Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-228564216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564216
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.215T>C
  hgvsp: ENSP00000397393.1:p.Val72Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.215T>C
  hgvsp: ENSP00000386298.1:p.Val72Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*240T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.215T>C
  hgvsp: ENSP00000258403.3:p.Val72Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.203T>C
  hgvsp: ENSP00000445519.1:p.Val68Ala
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.215T>C
  hgvsp: ENSP00000399001.1:p.Val72Ala
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val72Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-228564223-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564223
    reference: chr 2
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.208G>C
  hgvsp: ENSP00000399001.1:p.Val70Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.208G>C
  hgvsp: ENSP00000397393.1:p.Val70Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.208G>C
  hgvsp: ENSP00000258403.3:p.Val70Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.208G>C
  hgvsp: ENSP00000386298.1:p.Val70Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.196G>C
  hgvsp: ENSP00000445519.1:p.Val66Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*233G>C
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val70Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-228564225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564225
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564225
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.194C>T
  hgvsp: ENSP00000445519.1:p.Pro65Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.206C>T
  hgvsp: ENSP00000258403.3:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.206C>T
  hgvsp: ENSP00000399001.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.206C>T
  hgvsp: ENSP00000386298.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.206C>T
  hgvsp: ENSP00000397393.1:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*231C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro69Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

2-228564225-G-GGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564225
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564228
    reference: chr 2
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: GGCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.191_193dupTGC
  hgvsp: ENSP00000445519.1:p.Leu64dup
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.203_205dupTGC
  hgvsp: ENSP00000258403.3:p.Leu68dup
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.203_205dupTGC
  hgvsp: ENSP00000397393.1:p.Leu68dup
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.203_205dupTGC
  hgvsp: ENSP00000399001.1:p.Leu68dup
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*228_*230dupTGC
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.203_205dupTGC
  hgvsp: ENSP00000386298.1:p.Leu68dup
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu68dup
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-228564239-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564239
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564240
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.179_180insA
  hgvsp: ENSP00000445519.1:p.Val61GlyfsTer160
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.191_192insA
  hgvsp: ENSP00000398349.1:p.Leu65LeufsTer?
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.191_192insA
  hgvsp: ENSP00000399001.1:p.Val65GlyfsTer?
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.191_192insA
  hgvsp: ENSP00000397393.1:p.Val65GlyfsTer160
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.191_192insA
  hgvsp: ENSP00000258403.3:p.Val65GlyfsTer160
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*216_*217insA
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.191_192insA
  hgvsp: ENSP00000386298.1:p.Val65GlyfsTer116
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val65GlyfsTer160
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

2-228564244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564244
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564244
    reference: chr 2
allele count: 14
allele frequency: 1.154296456309879e-4
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.187T>C
  hgvsp: ENSP00000397393.1:p.Tyr63His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.187T>C
  hgvsp: ENSP00000398349.1:p.Tyr63His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.175T>C
  hgvsp: ENSP00000445519.1:p.Tyr59His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.187T>C
  hgvsp: ENSP00000258403.3:p.Tyr63His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*212T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.187T>C
  hgvsp: ENSP00000386298.1:p.Tyr63His
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.187T>C
  hgvsp: ENSP00000399001.1:p.Tyr63His
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 15065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr63His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

2-228564251-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564251
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564251
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.180A>G
  hgvsp: ENST00000419059.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.180A>G
  hgvsp: ENST00000258403.3:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.180A>G
  hgvsp: ENST00000409287.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.180A>G
  hgvsp: ENST00000425817.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.168A>G
  hgvsp: ENST00000541617.1:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.180A>G
  hgvsp: ENST00000456524.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*205A>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21804
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr60Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-228564259-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564259
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.160G>T
  hgvsp: ENSP00000445519.1:p.Val54Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.172G>T
  hgvsp: ENSP00000258403.3:p.Val58Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.172G>T
  hgvsp: ENSP00000397393.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.172G>T
  hgvsp: ENSP00000399001.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.172G>T
  hgvsp: ENSP00000398349.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.172G>T
  hgvsp: ENSP00000386298.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*197G>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val58Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-228564259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564259
    reference: chr 2
allele count: 3
allele frequency: 2.477005135657315e-5
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.160G>A
  hgvsp: ENSP00000445519.1:p.Val54Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*197G>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.172G>A
  hgvsp: ENSP00000399001.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.172G>A
  hgvsp: ENSP00000397393.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.172G>A
  hgvsp: ENSP00000258403.3:p.Val58Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.172G>A
  hgvsp: ENSP00000386298.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.172G>A
  hgvsp: ENSP00000398349.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val58Ile
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: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-228564260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564260
    reference: chr 2
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.171C>T
  hgvsp: ENST00000419059.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*196C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.171C>T
  hgvsp: ENST00000456524.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.159C>T
  hgvsp: ENST00000541617.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.171C>T
  hgvsp: ENST00000425817.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.171C>T
  hgvsp: ENST00000258403.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.171C>T
  hgvsp: ENST00000409287.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro57Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-228564263-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564263
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564263
    reference: chr 2
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.168C>A
  hgvsp: ENSP00000398349.1:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.156C>A
  hgvsp: ENSP00000445519.1:p.Phe52Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.168C>A
  hgvsp: ENSP00000397393.1:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*193C>A
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.168C>A
  hgvsp: ENSP00000386298.1:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.168C>A
  hgvsp: ENSP00000258403.3:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.168C>A
  hgvsp: ENSP00000399001.1:p.Phe56Leu
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe56Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-228564268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564268
    reference: chr 2
allele count: 3
allele frequency: 2.479953707530793e-5
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*188A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.163A>G
  hgvsp: ENSP00000258403.3:p.Ile55Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.151A>G
  hgvsp: ENSP00000445519.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.163A>G
  hgvsp: ENSP00000386298.1:p.Ile55Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.163A>G
  hgvsp: ENSP00000398349.1:p.Ile55Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.163A>G
  hgvsp: ENSP00000399001.1:p.Ile55Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.163A>G
  hgvsp: ENSP00000397393.1:p.Ile55Val
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile55Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-228564280-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564280
    reference: chr 2
allele count: 4
allele frequency: 3.312574532926991e-5
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000387193
  ensembl transcript: ENST00000409456
  gene symbol: SLC19A3
  hgvsc: ENST00000409456.2:c.151A>G
  hgvsp: ENSP00000387193.2:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.151A>G
  hgvsp: ENSP00000386298.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.151A>G
  hgvsp: ENSP00000398349.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.151A>G
  hgvsp: ENSP00000258403.3:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.151A>G
  hgvsp: ENSP00000397393.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*176A>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.139A>G
  hgvsp: ENSP00000445519.1:p.Ile47Val
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.151A>G
  hgvsp: ENSP00000399001.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile51Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-228564282-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564282
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564282
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.139-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000387193
  ensembl transcript: ENST00000409456
  gene symbol: SLC19A3
  hgvsc: ENST00000409456.2:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.151-2A>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*176-2A>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 8.75e1
  variant carriers: 0
hgvs: c.151-2A>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-228564285-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564285
    reference: chr 2
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000387193
  ensembl transcript: ENST00000409456
  gene symbol: SLC19A3
  hgvsc: ENST00000409456.2:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.139-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*176-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.151-5T>G
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
hgvs: c.151-5T>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-228564287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564287
    reference: chr 2
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.139-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*176-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000387193
  ensembl transcript: ENST00000409456
  gene symbol: SLC19A3
  hgvsc: ENST00000409456.2:c.151-7T>C
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: c.151-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-228564291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228564291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 228564291
    reference: chr 2
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000258403
  ensembl transcript: ENST00000258403
  gene symbol: SLC19A3
  hgvsc: ENST00000258403.3:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000445519
  ensembl transcript: ENST00000541617
  gene symbol: SLC19A3
  hgvsc: ENST00000541617.1:c.139-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000400627
  ensembl transcript: ENST00000431622
  gene symbol: SLC19A3
  hgvsc: ENST00000431622.1:c.*176-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000397393
  ensembl transcript: ENST00000425817
  gene symbol: SLC19A3
  hgvsc: ENST00000425817.1:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000398349
  ensembl transcript: ENST00000419059
  gene symbol: SLC19A3
  hgvsc: ENST00000419059.1:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000387193
  ensembl transcript: ENST00000409456
  gene symbol: SLC19A3
  hgvsc: ENST00000409456.2:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000399001
  ensembl transcript: ENST00000456524
  gene symbol: SLC19A3
  hgvsc: ENST00000456524.1:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135917
  ensembl protein: ENSP00000386298
  ensembl transcript: ENST00000409287
  gene symbol: SLC19A3
  hgvsc: ENST00000409287.1:c.151-11C>T
  variant of: http://identifiers.org/hgnc/16266
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

GenotypeQuality
all individuals: 2451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5960
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11576
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: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.522e0

DP
type: SiteQuality
SIO_000300: 2.400446e6

FS
type: SiteQuality
SIO_000300: 1.1908e1

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

GenotypeQuality
all individuals: 3524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11576
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.43e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

DP
type: SiteQuality
SIO_000300: 2.444127e6

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22145
bin: 9.75e1
variant carriers: 456

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5945
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 71
allele frequency: 1.07348049591775e-2
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 1.986869384934347e-3
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 337
allele frequency: 5.057781779978988e-3
allele num: 66630
num of homozygotes: 1

African
type: Population
allele count: 6
allele frequency: 5.80046403712297e-4
allele num: 10344
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 2.444127e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3543
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 2.40281e6

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14531
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

MQ
type: SiteQuality
SIO_000300: 5.866e1

DP
type: SiteQuality
SIO_000300: 2.40386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.07e0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21909
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

DP
type: SiteQuality
SIO_000300: 2.404117e6

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.033e1

GenotypeQuality
all individuals: 21908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
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: 11576
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.404529e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.3146e1

QD
type: SiteQuality
SIO_000300: 1.349e1

VQSLOD
type: SiteQuality
SIO_000300: -1.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6014
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

Latino
type: Population
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

FS
type: SiteQuality
SIO_000300: 1.3146e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.713e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 2.404529e6

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.929384526336099e-4
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 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: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 2.406199e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: -4.845e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

FS
type: SiteQuality
SIO_000300: 3.351e0

QD
type: SiteQuality
SIO_000300: 1.23e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
all individuals: 3541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21921
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14698
bin: 6.25e1
variant carriers: 0

Latino
type: Population
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: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.858769052672198e-4
allele num: 10366
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

FS
type: SiteQuality
SIO_000300: 5.36e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.410916e6

GenotypeQuality
all individuals: 21921
bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 4141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14698
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
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)
type: Population
allele count: 40
allele frequency: 6.000240009600384e-4
allele num: 66664
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.894076789504148e-4
allele num: 10366
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

FS
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 2.410916e6

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

GenotypeQuality
all individuals: 3541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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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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bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.332525741974561e-3
allele num: 16510
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

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.849857507124644e-4
allele num: 66670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.410887e6

FS
type: SiteQuality
SIO_000300: 1.736e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.507e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.407e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.156515034695451e-3
allele num: 10376
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 2.408836e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

GenotypeQuality
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bin: 7.75e1
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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GenotypeQuality
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variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.408036e6

FS
type: SiteQuality
SIO_000300: 5.269e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.922e0

QD
type: SiteQuality
SIO_000300: 1.45e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e0

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 14
allele frequency: 8.478682170542636e-4
allele num: 16512
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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.601e1

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 2.409102e6

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: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.487e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

FS
type: SiteQuality
SIO_000300: 3.833e0

DP
type: SiteQuality
SIO_000300: 2.408613e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.454e0

DP
type: SiteQuality
SIO_000300: 2.408897e6

FS
type: SiteQuality
SIO_000300: 8.858000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.879e1

MQRankSum
type: SiteQuality
SIO_000300: -1.236e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
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: 16512
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: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

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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bin: 9.75e1
variant carriers: 5

Other
type: Population
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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)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
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allele count: 4
allele frequency: 3.851338340073175e-4
allele num: 10386
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.91e1

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.497600767754318e-5
allele num: 66688
num of homozygotes: 0

East Asian
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Other
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Latino
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

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

European (Finnish)
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allele num: 6614
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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allele num: 8654
num of homozygotes: 0

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

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

Other
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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: 66704
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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 frequency: 2.906976744186046e-3
allele num: 16512
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

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

DP
type: SiteQuality
SIO_000300: 2.412813e6

MQ
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SIO_000300: 5.947e1

MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-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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African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

FS
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SIO_000300: 2.49e0

DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
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Latino
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allele frequency: 0.0e0
allele num: 11578
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East Asian
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ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
type: SiteQuality
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DP
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FS
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MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
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SIO_000300: 1.46e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.412696e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

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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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.3585e1

VQSLOD
type: SiteQuality
SIO_000300: -2.883e0

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.413568e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.769e1

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

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

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
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: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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East Asian
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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African
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Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66728
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South Asian
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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DP
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FS
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
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African
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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: 66732
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.398e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
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SIO_000300: 2.28e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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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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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.273e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
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SIO_000300: -5.724e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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DP
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 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 frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 11
allele frequency: 1.648285782785903e-4
allele num: 66736
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: 2.32e-1

FS
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DP
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MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.76e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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 (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e0

BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 2.414534e6

VQSLOD
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SIO_000300: -2.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.892e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.156e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

QD
type: SiteQuality
SIO_000300: 1.096e1

FS
type: SiteQuality
SIO_000300: 3.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.974e0

DP
type: SiteQuality
SIO_000300: 2.415122e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

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: 807

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

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.729771285796656e-3
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 36
allele frequency: 3.109345310070824e-3
allele num: 11578
num of homozygotes: 1

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: 201
allele frequency: 3.039008164499546e-2
allele num: 6614
num of homozygotes: 3

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 556
allele frequency: 8.331335411172381e-3
allele num: 66736
num of homozygotes: 4

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.683e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.52065e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Finnish)
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: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.414067e6

FS
type: SiteQuality
SIO_000300: 6.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

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: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

DP
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.945e1

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

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

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

African
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.049412329095706e-4
allele num: 66704
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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South Asian
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allele num: 16512
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MQ
type: SiteQuality
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MQRankSum
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FS
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
allele num: 66740
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QD
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DP
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.414329e6

QD
type: SiteQuality
SIO_000300: 1.457e1

FS
type: SiteQuality
SIO_000300: 2.595e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 6109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 2443
bin: 8.75e1
variant carriers: 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: 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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.49e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 7.494e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.413949e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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

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

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

DP
type: SiteQuality
SIO_000300: 2.41403e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.814e0

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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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: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.312e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.183e0

VQSLOD
type: SiteQuality
SIO_000300: -4.259e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.615e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.414158e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.746e0

QD
type: SiteQuality
SIO_000300: 1.32e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.776e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

FS
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MQ
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 906
num of homozygotes: 0

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

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

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
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allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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allele num: 66730
num of homozygotes: 0

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

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

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

African
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allele num: 10404
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South Asian
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European (Non-Finnish)
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Other
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allele num: 906
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.113e0

FS
type: SiteQuality
SIO_000300: 9.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 5.378e1

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.25e1
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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: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21814
bin: 9.75e1
variant carriers: 1

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66726
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.08e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.41392e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.912e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

QD
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4156
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.414e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

DP
type: SiteQuality
SIO_000300: 2.413711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 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: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e0

DP
type: SiteQuality
SIO_000300: 2.413543e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.272e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
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: 10396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.413293e6

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 2.025e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 2.413312e6

MQ
type: SiteQuality
SIO_000300: 5.65e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 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: 66696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.413312e6

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
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QD
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SIO_000300: 1.227e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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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

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

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

African
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allele count: 14
allele frequency: 1.349787890474354e-3
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.412314e6

FS
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 7.83e0

QD
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DP
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SIO_000300: 2.407192e6

BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

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

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

African
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allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.964e1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.487e1

ClippingRankSum
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SIO_000300: 2.09e0

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

QD
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SIO_000300: 1.133e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.152e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.875e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 2.4057e6

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515488124266233e-5
allele num: 66438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.752e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.032818532818533e-5
allele num: 66304
num of homozygotes: 0

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

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

South Asian
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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South Asian
type: Population
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Other
type: Population
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VQSLOD
type: SiteQuality
SIO_000300: -7.106e-1

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Other
type: Population
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VQSLOD
type: SiteQuality
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
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allele num: 66250
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Other
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

Other
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allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.998e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0