http://identifiers.org/exac.variant/12-51868269-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868269
    reference: chr 12
allele count: 1
allele frequency: 1.42555739294064e-5
allele num: 70148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.1889C>A
  hgvsp: ENSP00000441520.1:p.Thr630Asn
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+38C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+38C>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr630Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-51868269-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868269
    reference: chr 12
allele count: 1
allele frequency: 1.42555739294064e-5
allele num: 70148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+38C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.1889C>G
  hgvsp: ENSP00000441520.1:p.Thr630Ser
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr630Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-51868280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868280
    reference: chr 12
allele count: 1
allele frequency: 1.647229360216117e-5
allele num: 60708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.1900G>A
  hgvsp: ENSP00000441520.1:p.Gly634Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+49G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+49G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly634Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-51868287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868287
    reference: chr 12
allele count: 2
allele frequency: 3.671071953010279e-5
allele num: 54480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+56C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.1907C>T
  hgvsp: ENSP00000441520.1:p.Thr636Ile
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr636Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-51868304-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868304
    reference: chr 12
allele count: 1
allele frequency: 2.269426289034132e-5
allele num: 44064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*7G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+73G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+73G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-51868310-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868310
    reference: chr 12
allele count: 23
allele frequency: 5.706063312493798e-4
allele num: 40308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*13G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+79G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+79G>T
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18572
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6727
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

12-51868316-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868316
    reference: chr 12
allele count: 10
allele frequency: 2.629503023928478e-4
allele num: 38030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*19T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+85T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+85T>C
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23239
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-51868324-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868324
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 33680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*27C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+93C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+93C>G
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25615
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26835
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-51868330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868330
    reference: chr 12
allele count: 1
allele frequency: 3.429120087785474e-5
allele num: 29162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*33C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+99C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+99C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

12-51868337-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868337
    reference: chr 12
allele count: 1
allele frequency: 4.069010416666666e-5
allele num: 24576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2091+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1851+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2267+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2196+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1851+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2010+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2025+106C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000441520
  ensembl transcript: ENST00000535225
  gene symbol: SLC4A8
  hgvsc: ENST00000535225.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

12-51868782-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868782
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868781
    reference: chr 12
allele count: 1
allele frequency: 8.592837011067574e-6
allele num: 116376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2268-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2092-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2197-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1852-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1852-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2011-44delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2026-44delT
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: AT
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

12-51868790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868790
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868790
    reference: chr 12
allele count: 15
allele frequency: 1.283784940346793e-4
allele num: 116842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2268-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2026-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2011-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2092-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2197-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1852-39G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1852-39G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18669
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10372
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-51868801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868801
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868801
    reference: chr 12
allele count: 3
allele frequency: 2.549459514582908e-5
allele num: 117672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2092-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1852-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2026-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2197-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2011-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1852-28T>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2268-28T>C
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10472
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-51868807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868807
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868807
    reference: chr 12
allele count: 1
allele frequency: 8.462098261885017e-6
allele num: 118174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2026-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1852-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2092-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2197-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1852-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2011-22C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2268-22C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7412
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-51868816-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868816
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868816
    reference: chr 12
allele count: 3
allele frequency: 2.515765463571716e-5
allele num: 119248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2092-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2011-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1852-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2197-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1852-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2268-13C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2026-13C>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3651
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-51868834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868834
    reference: chr 12
allele count: 2
allele frequency: 1.658072325114821e-5
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2202C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2031C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2016C>T
  hgvsp: ENST00000453097.2:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1857C>T
  hgvsp: ENST00000514353.3:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2097C>T
  hgvsp: ENST00000358657.3:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2273C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1857C>T
  hgvsp: ENST00000394856.1:c.1857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10632
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Cys672Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-51868839-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868839
    reference: chr 12
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1862A>C
  hgvsp: ENSP00000378325.1:p.Glu621Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2036A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2102A>C
  hgvsp: ENSP00000351483.3:p.Glu701Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2021A>C
  hgvsp: ENSP00000405812.2:p.Glu674Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2207A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1862A>C
  hgvsp: ENSP00000442561.2:p.Glu621Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2278A>C
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4473
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu674Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-51868856-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868856
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2224A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2119A>C
  hgvsp: ENSP00000351483.3:p.Met707Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2038A>C
  hgvsp: ENSP00000405812.2:p.Met680Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2053A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1879A>C
  hgvsp: ENSP00000442561.2:p.Met627Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2295A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1879A>C
  hgvsp: ENSP00000378325.1:p.Met627Leu
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met680Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-51868856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868856
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868856
    reference: chr 12
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2119A>G
  hgvsp: ENSP00000351483.3:p.Met707Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1879A>G
  hgvsp: ENSP00000442561.2:p.Met627Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2224A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2038A>G
  hgvsp: ENSP00000405812.2:p.Met680Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2053A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2295A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1879A>G
  hgvsp: ENSP00000378325.1:p.Met627Val
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met680Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

12-51868861-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868861
    reference: chr 12
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2124A>T
  hgvsp: ENST00000358657.3:c.2124A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1884A>T
  hgvsp: ENST00000394856.1:c.1884A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2229A>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2058A>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2043A>T
  hgvsp: ENST00000453097.2:c.2043A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1884A>T
  hgvsp: ENST00000514353.3:c.1884A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2300A>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10669
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly681Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-51868866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868866
    reference: chr 12
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2129C>T
  hgvsp: ENSP00000351483.3:p.Ala710Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2305C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2234C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2048C>T
  hgvsp: ENSP00000405812.2:p.Ala683Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1889C>T
  hgvsp: ENSP00000442561.2:p.Ala630Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2063C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1889C>T
  hgvsp: ENSP00000378325.1:p.Ala630Val
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala683Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-51868867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868867
    reference: chr 12
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2130G>A
  hgvsp: ENST00000358657.3:c.2130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1890G>A
  hgvsp: ENST00000394856.1:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1890G>A
  hgvsp: ENST00000514353.3:c.1890G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2064G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2306G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2049G>A
  hgvsp: ENST00000453097.2:c.2049G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2235G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala683Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-51868867-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868867
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868867
    reference: chr 12
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2235G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2049G>T
  hgvsp: ENST00000453097.2:c.2049G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2064G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2306G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1890G>T
  hgvsp: ENST00000394856.1:c.1890G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1890G>T
  hgvsp: ENST00000514353.3:c.1890G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2130G>T
  hgvsp: ENST00000358657.3:c.2130G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala683Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-51868870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868870
    reference: chr 12
allele count: 6
allele frequency: 4.946087644673064e-5
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2052C>T
  hgvsp: ENST00000453097.2:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1893C>T
  hgvsp: ENST00000514353.3:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2309C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2067C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2133C>T
  hgvsp: ENST00000358657.3:c.2133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1893C>T
  hgvsp: ENST00000394856.1:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2238C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10680
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys684Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

12-51868885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868885
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868885
    reference: chr 12
allele count: 4
allele frequency: 3.295707341188102e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2324C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2082C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1908C>T
  hgvsp: ENST00000394856.1:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2148C>T
  hgvsp: ENST00000358657.3:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2253C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1908C>T
  hgvsp: ENST00000514353.3:c.1908C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2067C>T
  hgvsp: ENST00000453097.2:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro689Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

12-51868901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868901
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868901
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2098C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1924C>T
  hgvsp: ENSP00000442561.2:p.Leu642Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2269C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2340C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2083C>T
  hgvsp: ENSP00000405812.2:p.Leu695Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1924C>T
  hgvsp: ENSP00000378325.1:p.Leu642Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2164C>T
  hgvsp: ENSP00000351483.3:p.Leu722Phe
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu695Phe
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

12-51868907-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868907
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868907
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1930T>G
  hgvsp: ENSP00000378325.1:p.Trp644Gly
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2275T>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1930T>G
  hgvsp: ENSP00000442561.2:p.Trp644Gly
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2170T>G
  hgvsp: ENSP00000351483.3:p.Trp724Gly
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2089T>G
  hgvsp: ENSP00000405812.2:p.Trp697Gly
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2346T>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2104T>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp697Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-51868921-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868921
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868921
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1944C>G
  hgvsp: ENST00000394856.1:c.1944C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2289C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2118C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2103C>G
  hgvsp: ENST00000453097.2:c.2103C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2184C>G
  hgvsp: ENST00000358657.3:c.2184C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1944C>G
  hgvsp: ENST00000514353.3:c.1944C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2360C>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu701Leu
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: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

12-51868930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868930
    reference: chr 12
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1953C>T
  hgvsp: ENST00000514353.3:c.1953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2193C>T
  hgvsp: ENST00000358657.3:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2112C>T
  hgvsp: ENST00000453097.2:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2127C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2298C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1953C>T
  hgvsp: ENST00000394856.1:c.1953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2369C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr704Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-51868937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868937
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2200A>G
  hgvsp: ENSP00000351483.3:p.Ile734Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2119A>G
  hgvsp: ENSP00000405812.2:p.Ile707Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1960A>G
  hgvsp: ENSP00000442561.2:p.Ile654Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2134A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2305A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1960A>G
  hgvsp: ENSP00000378325.1:p.Ile654Val
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2376A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  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: 2798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10753
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile707Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-51868940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868940
    reference: chr 12
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1963C>T
  hgvsp: ENSP00000442561.2:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2122C>T
  hgvsp: ENSP00000405812.2:p.Leu708Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2137C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1963C>T
  hgvsp: ENSP00000378325.1:p.Leu655Phe
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2308C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2379C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2203C>T
  hgvsp: ENSP00000351483.3:p.Leu735Phe
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10755
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu708Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-51868942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868942
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868942
    reference: chr 12
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1965C>T
  hgvsp: ENST00000514353.3:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1965C>T
  hgvsp: ENST00000394856.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2139C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2310C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2124C>T
  hgvsp: ENST00000453097.2:c.2124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2381C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2205C>T
  hgvsp: ENST00000358657.3:c.2205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  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: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu708Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-51868953-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868953
    reference: chr 12
allele count: 3
allele frequency: 2.500833611203735e-5
allele num: 119960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1976T>A
  hgvsp: ENSP00000442561.2:p.Leu659Ter
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2321T>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1976T>A
  hgvsp: ENSP00000378325.1:p.Leu659Ter
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2216T>A
  hgvsp: ENSP00000351483.3:p.Leu739Ter
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2150T>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2392T>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2135T>A
  hgvsp: ENSP00000405812.2:p.Leu712Ter
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Leu712Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-51868958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868958
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1981A>G
  hgvsp: ENSP00000378325.1:p.Thr661Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2155A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2221A>G
  hgvsp: ENSP00000351483.3:p.Thr741Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1981A>G
  hgvsp: ENSP00000442561.2:p.Thr661Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2326A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2397A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2140A>G
  hgvsp: ENSP00000405812.2:p.Thr714Ala
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr714Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-51868958-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868958
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868958
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2155A>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1981A>T
  hgvsp: ENSP00000378325.1:p.Thr661Ser
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2140A>T
  hgvsp: ENSP00000405812.2:p.Thr714Ser
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2221A>T
  hgvsp: ENSP00000351483.3:p.Thr741Ser
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2326A>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1981A>T
  hgvsp: ENSP00000442561.2:p.Thr661Ser
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2397A>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr714Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-51868959-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868959
    reference: chr 12
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2141C>G
  hgvsp: ENSP00000405812.2:p.Thr714Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1982C>G
  hgvsp: ENSP00000442561.2:p.Thr661Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2398C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1982C>G
  hgvsp: ENSP00000378325.1:p.Thr661Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2327C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2156C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2222C>G
  hgvsp: ENSP00000351483.3:p.Thr741Arg
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr714Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-51868959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868959
    reference: chr 12
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2222C>T
  hgvsp: ENSP00000351483.3:p.Thr741Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1982C>T
  hgvsp: ENSP00000442561.2:p.Thr661Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2327C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2398C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2156C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2141C>T
  hgvsp: ENSP00000405812.2:p.Thr714Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1982C>T
  hgvsp: ENSP00000378325.1:p.Thr661Met
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11077
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr714Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

12-51868960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868960
    reference: chr 12
allele count: 3
allele frequency: 2.488057324840764e-5
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2399G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1983G>A
  hgvsp: ENST00000394856.1:c.1983G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2328G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2142G>A
  hgvsp: ENST00000453097.2:c.2142G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2223G>A
  hgvsp: ENST00000358657.3:c.2223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2157G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1983G>A
  hgvsp: ENST00000514353.3:c.1983G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10978
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr714Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-51868960-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868960
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868960
    reference: chr 12
allele count: 50
allele frequency: 4.146762208067941e-4
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1983G>T
  hgvsp: ENST00000514353.3:c.1983G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2157G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2223G>T
  hgvsp: ENST00000358657.3:c.2223G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2328G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1983G>T
  hgvsp: ENST00000394856.1:c.1983G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2142G>T
  hgvsp: ENST00000453097.2:c.2142G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2399G>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 4
hgvs: p.Thr714Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-51868963-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868963
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868963
    reference: chr 12
allele count: 19
allele frequency: 1.577889614164466e-4
allele num: 120414
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2145T>A
  hgvsp: ENSP00000405812.2:p.Phe715Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2331T>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1986T>A
  hgvsp: ENSP00000378325.1:p.Phe662Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2226T>A
  hgvsp: ENSP00000351483.3:p.Phe742Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2160T>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1986T>A
  hgvsp: ENSP00000442561.2:p.Phe662Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2402T>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11021
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe715Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-51868965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868965
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868965
    reference: chr 12
allele count: 4
allele frequency: 3.298642608566575e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1988A>G
  hgvsp: ENSP00000378325.1:p.Lys663Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2333A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2147A>G
  hgvsp: ENSP00000405812.2:p.Lys716Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2404A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2228A>G
  hgvsp: ENSP00000351483.3:p.Lys743Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1988A>G
  hgvsp: ENSP00000442561.2:p.Lys663Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2162A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys716Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

12-51868967-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868967
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868967
    reference: chr 12
allele count: 78
allele frequency: 6.75055821923736e-4
allele num: 115546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2164A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2149A>G
  hgvsp: ENSP00000405812.2:p.Thr717Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1990A>G
  hgvsp: ENSP00000442561.2:p.Thr664Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2230A>G
  hgvsp: ENSP00000351483.3:p.Thr744Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2335A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1990A>G
  hgvsp: ENSP00000378325.1:p.Thr664Ala
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2406A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9733
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 5261
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7608
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr717Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-51868968-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868968
    reference: chr 12
allele count: 1914
allele frequency: 2.326429404900817e-2
allele num: 82272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2231C>G
  hgvsp: ENSP00000351483.3:p.Thr744Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1991C>G
  hgvsp: ENSP00000378325.1:p.Thr664Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2165C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1991C>G
  hgvsp: ENSP00000442561.2:p.Thr664Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2150C>G
  hgvsp: ENSP00000405812.2:p.Thr717Arg
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2407C>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2336C>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 9.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 8.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 15611
  bin: 9.75e1
  variant carriers: 1562
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.5e0
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 4.25e1
  variant carriers: 103
genotype quality: GenotypeQuality
  all individuals: 16718
  bin: 2.5e0
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.25e1
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 6.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.25e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 94
hgvs: p.Thr717Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

12-51868968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868968
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868968
    reference: chr 12
allele count: 1
allele frequency: 1.215480357837417e-5
allele num: 82272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1991C>T
  hgvsp: ENSP00000378325.1:p.Thr664Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1991C>T
  hgvsp: ENSP00000442561.2:p.Thr664Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2336C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2407C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2150C>T
  hgvsp: ENSP00000405812.2:p.Thr717Met
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2165C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2231C>T
  hgvsp: ENSP00000351483.3:p.Thr744Met
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr717Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-51868969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868969
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868969
    reference: chr 12
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1992G>A
  hgvsp: ENST00000514353.3:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2232G>A
  hgvsp: ENST00000358657.3:c.2232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1992G>A
  hgvsp: ENST00000394856.1:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2166G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2337G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2408G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2151G>A
  hgvsp: ENST00000453097.2:c.2151G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28608
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr717Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-51868973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868973
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868973
    reference: chr 12
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1996C>T
  hgvsp: ENSP00000442561.2:p.Arg666Cys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2341C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2170C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2236C>T
  hgvsp: ENSP00000351483.3:p.Arg746Cys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2155C>T
  hgvsp: ENSP00000405812.2:p.Arg719Cys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1996C>T
  hgvsp: ENSP00000378325.1:p.Arg666Cys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2412C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.75e1
  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: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg719Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-51868974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868974
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868974
    reference: chr 12
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2171G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2413G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.1997G>A
  hgvsp: ENSP00000442561.2:p.Arg666His
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2237G>A
  hgvsp: ENSP00000351483.3:p.Arg746His
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.1997G>A
  hgvsp: ENSP00000378325.1:p.Arg666His
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2156G>A
  hgvsp: ENSP00000405812.2:p.Arg719His
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2342G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28613
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg719His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

12-51868997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51868997
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51868997
    reference: chr 12
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+7A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+7A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28598
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: c.2172+7A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-51869000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869000
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869000
    reference: chr 12
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+10A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+10A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-51869005-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869005
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869004
    reference: chr 12
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+16delA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+16delA
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: CA
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-51869007-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869007
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869008
    reference: chr 12
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+18dupG
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+18dupG
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28595
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-51869008-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869008
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869008
    reference: chr 12
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+18G>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+18G>T
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-51869021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869021
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869021
    reference: chr 12
allele count: 53
allele frequency: 4.4128422034237e-4
allele num: 120104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+31G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+31G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28613
  bin: 9.75e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-51869025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869025
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869025
    reference: chr 12
allele count: 3
allele frequency: 2.501083802981292e-5
allele num: 119948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+35G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+35G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-51869030-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869030
    reference: chr 12
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+40A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+40A>C
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-51869030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869030
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869030
    reference: chr 12
allele count: 1
allele frequency: 8.354079296920687e-6
allele num: 119702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+40A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+40A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-51869031-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869031
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869031
    reference: chr 12
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+41A>G
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+41A>G
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

12-51869033-TATAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869033
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869028
    reference: chr 12
allele count: 3
allele frequency: 2.509452270217821e-5
allele num: 119548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+45_2253+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+45_2358+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+45_2013+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+45_2013+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+45_2187+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+45_2172+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+45_2429+49delTAACA
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28605
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: TATAAC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-51869038-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869038
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869036
    reference: chr 12
allele count: 46
allele frequency: 3.864312236428704e-4
allele num: 119038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+50_2013+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+50_2013+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+50_2172+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+50_2187+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+50_2253+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+50_2429+51delGA
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+50_2358+51delGA
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: CAG
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-51869039-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51869039
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51869039
    reference: chr 12
allele count: 2
allele frequency: 1.681067814275628e-5
allele num: 118972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2013+49A>C
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2013+49A>C
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-51873753-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873752
    reference: chr 12
allele count: 545
allele frequency: 2.252066115702479e-1
allele num: 2420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4782delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4782delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2014-4delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2014-4delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4782delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4782delT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4782delT
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 572
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 764
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 147
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 20
num of homozygotes: 3
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AT
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-51873753-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873754
    reference: chr 12
allele count: 42
allele frequency: 1.735537190082645e-2
allele num: 2420
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4782dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4782dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2014-4dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2014-4dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4782dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4782dupT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4782dupT
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-51873753-A-ATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873755
    reference: chr 12
allele count: 6
allele frequency: 2.479338842975207e-3
allele num: 2420
alternate allele: ATT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2014-5_2014-4dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4781_2429+4782dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4781_2358+4782dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4781_2253+4782dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4781_2172+4782dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2014-5_2014-4dupTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4781_2187+4782dupTT
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-51873753-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873751
    reference: chr 12
allele count: 758
allele frequency: 3.132231404958677e-1
allele num: 2420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2014-5_2014-4delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4781_2187+4782delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2014-5_2014-4delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4781_2172+4782delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4781_2429+4782delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4781_2358+4782delTT
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4781_2253+4782delTT
  variant of: http://identifiers.org/hgnc/11034
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 942
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 96
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 168
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 72
num of homozygotes: 4
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: ATT
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-51873753-ATTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873750
    reference: chr 12
allele count: 127
allele frequency: 5.24793388429752e-2
allele num: 2420
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 63
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 80
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 4.545454545454546e-2
  allele num: 22
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 3
  allele frequency: 1.0e-1
  allele num: 30
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: ATTT
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-51873753-ATTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873753
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873749
    reference: chr 12
allele count: 14
allele frequency: 5.785123966942148e-3
allele num: 2420
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 22
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 9
  allele frequency: 5.674653215636823e-3
  allele num: 1586
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.559270516717325e-3
  allele num: 658
  num of homozygotes: 0
population: African
population: East Asian
population: Other
reference allele: ATTTT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

12-51873793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873793
    reference: chr 12
allele count: 1
allele frequency: 3.563791874554526e-4
allele num: 2806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4803C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4803C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4803C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2031C>T
  hgvsp: ENST00000394856.1:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2031C>T
  hgvsp: ENST00000514353.3:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4803C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4803C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val677Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/12-51873835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873835
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2073C>A
  hgvsp: ENSP00000378325.1:p.Asn691Lys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4845C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2073C>A
  hgvsp: ENSP00000442561.2:p.Asn691Lys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4845C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4845C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4845C>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4845C>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn691Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

12-51873839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873839
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4849C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4849C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2077C>T
  hgvsp: ENSP00000442561.2:p.Arg693Cys
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4849C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4849C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4849C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2077C>T
  hgvsp: ENSP00000378325.1:p.Arg693Cys
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg693Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-51873849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873849
    reference: chr 12
allele count: 1
allele frequency: 7.886435331230284e-4
allele num: 1268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4859C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2087C>T
  hgvsp: ENSP00000442561.2:p.Pro696Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4859C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4859C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4859C>T
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2087C>T
  hgvsp: ENSP00000378325.1:p.Pro696Leu
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4859C>T
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro696Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

12-51873850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873850
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873850
    reference: chr 12
allele count: 1
allele frequency: 8.389261744966443e-4
allele num: 1192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4860G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4860G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4860G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4860G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2088G>A
  hgvsp: ENST00000394856.1:c.2088G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2088G>A
  hgvsp: ENST00000514353.3:c.2088G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4860G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro696Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-51873872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 51873872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 51873872
    reference: chr 12
allele count: 1
allele frequency: 9.074410163339383e-4
allele num: 1102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000604314
  gene symbol: SLC4A8
  hgvsc: ENST00000604314.1:n.2429+4882G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000378325
  ensembl transcript: ENST00000394856
  gene symbol: SLC4A8
  hgvsc: ENST00000394856.1:c.2110G>A
  hgvsp: ENSP00000378325.1:p.Ala704Thr
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000351483
  ensembl transcript: ENST00000358657
  gene symbol: SLC4A8
  hgvsc: ENST00000358657.3:c.2253+4882G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000405812
  ensembl transcript: ENST00000453097
  gene symbol: SLC4A8
  hgvsc: ENST00000453097.2:c.2172+4882G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000551071
  gene symbol: SLC4A8
  hgvsc: ENST00000551071.1:n.2358+4882G>A
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000050438
  ensembl protein: ENSP00000442561
  ensembl transcript: ENST00000514353
  gene symbol: SLC4A8
  hgvsc: ENST00000514353.3:c.2110G>A
  hgvsp: ENSP00000442561.2:p.Ala704Thr
  variant of: http://identifiers.org/hgnc/11034
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000050438
  ensembl transcript: ENST00000319957
  gene symbol: SLC4A8
  hgvsc: ENST00000319957.6:n.2187+4882G>A
  variant of: http://identifiers.org/hgnc/11034
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala704Thr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32404
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3626
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 2.063557573256294e-4
allele num: 4846
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 2.688750268875027e-5
allele num: 37192
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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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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African
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East Asian
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allele frequency: 2.898550724637681e-4
allele num: 3450
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Other
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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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 10472
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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 count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 7.036307345904869e-5
allele num: 28424
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: -1.185e-1

FS
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MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
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SIO_000300: -7.31e-1

ClippingRankSum
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SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 7.52946e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.95e-2

QD
type: SiteQuality
SIO_000300: 1.656e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 4.447607187333215e-5
allele num: 22484
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2882
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 2000
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African
type: Population
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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: 436
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.131e1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 24

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20316
num of homozygotes: 0

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

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

African
type: Population
allele count: 23
allele frequency: 4.93138936535163e-3
allele num: 4664
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 2.057e0

DP
type: SiteQuality
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MQRankSum
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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variant carriers: 10

European (Finnish)
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allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

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

Other
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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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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East Asian
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South Asian
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Other
type: Population
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European (Non-Finnish)
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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MQ
type: SiteQuality
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FS
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VQSLOD
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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Other
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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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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African
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allele frequency: 3.084515731030228e-4
allele num: 3242
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.252e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.30623e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

GenotypeQuality
all individuals: 6187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4387
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.54e-1

DP
type: SiteQuality
SIO_000300: 1.776534e6

FS
type: SiteQuality
SIO_000300: 6.466e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.082e1

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 2060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14056
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.757675181626435e-3
allele num: 8534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.672e0

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.815951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.621002970470033e-4
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

FS
type: SiteQuality
SIO_000300: 5.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.802e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.868169e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 1987
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10514
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21012
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521745746720638e-5
allele num: 65714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

MQ
type: SiteQuality
SIO_000300: 5.542e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.888573e6

GenotypeQuality
all individuals: 348
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5264
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10590
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.626773596545342e-4
allele num: 6484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.911789e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 7.699e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7935
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variant carriers: 0

GenotypeQuality
all individuals: 5411
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variant carriers: 0

GenotypeQuality
all individuals: 2088
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3784
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variant carriers: 0

GenotypeQuality
all individuals: 4446
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variant carriers: 0

GenotypeQuality
all individuals: 22616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

DP
type: SiteQuality
SIO_000300: 1.939812e6

QD
type: SiteQuality
SIO_000300: 7.7e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
all individuals: 2763
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
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variant carriers: 0

GenotypeQuality
all individuals: 5458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10644
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variant carriers: 1

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

GenotypeQuality
all individuals: 3828
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variant carriers: 0

GenotypeQuality
all individuals: 22712
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.144015728680265e-5
allele num: 16276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.944215e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

GenotypeQuality
all individuals: 22967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8070
bin: 6.75e1
variant carriers: 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: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 11566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.24e1

DP
type: SiteQuality
SIO_000300: 1.951474e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.951474e6

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4504
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22979
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GenotypeQuality
all individuals: 2775
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variant carriers: 0

GenotypeQuality
all individuals: 5497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500645277469312e-5
allele num: 66638
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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African
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East Asian
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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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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Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66656
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African
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allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
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Other
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FS
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VQSLOD
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66662
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African
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Latino
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
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allele frequency: 2.313743637204998e-4
allele num: 8644
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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QD
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FS
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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SIO_000300: 3.05e0

DP
type: SiteQuality
SIO_000300: 1.954013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.499625018749062e-5
allele num: 66670
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Other
type: Population
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allele num: 906
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DP
type: SiteQuality
SIO_000300: 1.955137e6

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.996282304970918e-5
allele num: 66708
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Other
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East Asian
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
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FS
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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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European (Finnish)
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Other
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European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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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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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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QD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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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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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.495324862143371e-5
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Other
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South Asian
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MQ
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QD
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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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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Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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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 frequency: 0.0e0
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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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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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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Other
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InbreedingCoeff
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ClippingRankSum
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MQ
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SIO_000300: 5.911e1

FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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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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South Asian
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.495459585818323e-5
allele num: 66734
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
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MQ
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66492
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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South Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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Other
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allele num: 906
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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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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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

ClippingRankSum
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MQ
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

South Asian
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Latino
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European (Finnish)
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East Asian
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African
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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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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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.999400119976005e-5
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South Asian
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Latino
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African
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East Asian
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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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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Latino
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allele num: 11572
num of homozygotes: 0

South Asian
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Other
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10978
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3817
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2789
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.158559696778269e-4
allele num: 66486
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.946209966613083e-4
allele num: 16174
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.678727386150967e-4
allele num: 6412
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.098102730217492e-4
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

QD
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.292e0

DP
type: SiteQuality
SIO_000300: 2.038943e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 5.3258e1

VQSLOD
type: SiteQuality
SIO_000300: -5.443e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.14e-1

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 292
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 21036
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2146
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4470
bin: 8.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.635590448151783e-4
allele num: 6114
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.503940323647958e-4
allele num: 66492
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.132711885195633e-5
allele num: 16306
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.81139337952271e-4
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 8.040900000000001e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

DP
type: SiteQuality
SIO_000300: 2.039282e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.29e0

QD
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.701e0

GenotypeQuality
all individuals: 251
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11506
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7914
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-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

VQSLOD
type: SiteQuality
SIO_000300: -4.223e-1

DP
type: SiteQuality
SIO_000300: 2.037157e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 8.475e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

GenotypeQuality
all individuals: 219
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2403
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 342
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2069
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 380
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 289
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20153
bin: 6.25e1
variant carriers: 3

Latino
type: Population
allele count: 13
allele frequency: 1.138154438802311e-3
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.176747469992939e-3
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 5.032712632108706e-4
allele num: 63584
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.371308016877637e-3
allele num: 9480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 9.349289454001496e-4
allele num: 5348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.049524274213223e-4
allele num: 16396
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.405e1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.839e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 2.252723e6

FS
type: SiteQuality
SIO_000300: 1.23875e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.697e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

QD
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 901
bin: 1.75e1
variant carriers: 140

GenotypeQuality
all individuals: 1354
bin: 8.75e1
variant carriers: 54

GenotypeQuality
all individuals: 923
bin: 5.75e1
variant carriers: 85

GenotypeQuality
all individuals: 7452
bin: 9.75e1
variant carriers: 750

GenotypeQuality
all individuals: 881
bin: 5.25e1
variant carriers: 75

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 120

GenotypeQuality
all individuals: 927
bin: 2.75e1
variant carriers: 90

GenotypeQuality
all individuals: 1710
bin: 9.25e1
variant carriers: 50

GenotypeQuality
all individuals: 2564
bin: 8.25e1
variant carriers: 46

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 50

GenotypeQuality
all individuals: 11336
bin: 6.25e1
variant carriers: 71

Latino
type: Population
allele count: 245
allele frequency: 3.43811394891945e-2
allele num: 7126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 145
allele frequency: 6.046705587989992e-2
allele num: 2398
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 9.29368029739777e-3
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 920
allele frequency: 1.898316275998679e-2
allele num: 48464
num of homozygotes: 0

African
type: Population
allele count: 195
allele frequency: 3.181076672104405e-2
allele num: 6130
num of homozygotes: 0

East Asian
type: Population
allele count: 250
allele frequency: 4.622781065088757e-2
allele num: 5408
num of homozygotes: 0

South Asian
type: Population
allele count: 154
allele frequency: 1.261467889908257e-2
allele num: 12208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.352e2

FS
type: SiteQuality
SIO_000300: 2.23149e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 9.3e-1

DP
type: SiteQuality
SIO_000300: 3.84044e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 11336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16718
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.063387256520304e-5
allele num: 48464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 2.23149e2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.461e0

VQSLOD
type: SiteQuality
SIO_000300: -2.352e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

DP
type: SiteQuality
SIO_000300: 3.84044e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 2329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 8.25e1
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: 66666
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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: 16458
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.605e0

DP
type: SiteQuality
SIO_000300: 2.973788e6

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.091e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.446e1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28612
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

FS
type: SiteQuality
SIO_000300: 7.448e0

QD
type: SiteQuality
SIO_000300: 1.557e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.479e0

DP
type: SiteQuality
SIO_000300: 2.972435e6

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
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: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.972045e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.995e0

VQSLOD
type: SiteQuality
SIO_000300: -3.097e0

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 2.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.391e0

GenotypeQuality
all individuals: 13701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.958302e6

FS
type: SiteQuality
SIO_000300: 6.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.186e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.134e0

GenotypeQuality
all individuals: 2980
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28598
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
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: 16048
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.41e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 2.952478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: -1.122e0

FS
type: SiteQuality
SIO_000300: 1.0462e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeQuality
all individuals: 28598
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
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: 896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.948802e6

QD
type: SiteQuality
SIO_000300: 2.634e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.03e1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.75e1
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: 66496
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.496e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 2.944781e6

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

FS
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4640
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.591e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 1.267e0

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 2.94459e6

GenotypeQuality
all individuals: 2336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11382
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 51
allele frequency: 4.905732974220854e-3
allele num: 10396
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
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: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15602
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.405e0

DP
type: SiteQuality
SIO_000300: 2.920175e6

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 4363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 28603
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014136299243452e-5
allele num: 66354
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.557e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 2.913878e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.941e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 924
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.909033e6

FS
type: SiteQuality
SIO_000300: 2.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 2.371e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 2.909033e6

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 614
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1524
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0638e1

DP
type: SiteQuality
SIO_000300: 2.907464e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.581545346847439e-5
allele num: 15194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018412315122246e-5
allele num: 66260
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 1.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

QD
type: SiteQuality
SIO_000300: 7.92e0

DP
type: SiteQuality
SIO_000300: 2.907327e6

GenotypeQuality
all individuals: 2970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10168
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 45

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.569606094501043e-4
allele num: 66158
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.393665158371041e-3
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.756282085922724e-3
allele num: 14804
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.84e1

DP
type: SiteQuality
SIO_000300: 2.905589e6

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e0

GenotypeQuality
all individuals: 2970
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3265
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.416e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.8999e1

DP
type: SiteQuality
SIO_000300: 2.903456e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 116

GenotypeQuality
all individuals: 318
bin: 1.75e1
variant carriers: 166

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 76

GenotypeQuality
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bin: 4.25e1
variant carriers: 95

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
all individuals: 96
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variant carriers: 28

GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 18

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

Other
type: Population
allele count: 4
allele frequency: 1.333333333333333e-1
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.818181818181818e-1
allele num: 22
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 3.875e-1
allele num: 80
num of homozygotes: 1

African
type: Population
allele count: 12
allele frequency: 2.727272727272727e-1
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 2.355623100303951e-1
allele num: 658
num of homozygotes: 2

South Asian
type: Population
allele count: 339
allele frequency: 2.137452711223203e-1
allele num: 1586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

FS
type: SiteQuality
SIO_000300: 4.0423e1

DP
type: SiteQuality
SIO_000300: 5.8378e4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2067
bin: 2.5e0
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GenotypeQuality
all individuals: 89
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 159
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GenotypeQuality
all individuals: 96
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variant carriers: 1

GenotypeQuality
all individuals: 318
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
all individuals: 90
bin: 7.75e1
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GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 4.545454545454546e-2
allele num: 22
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.891551071878941e-2
allele num: 1586
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 4.545454545454546e-2
allele num: 44
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.333333333333333e-2
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.5e-2
allele num: 80
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.11854103343465e-3
allele num: 658
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 5.8378e4

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

FS
type: SiteQuality
SIO_000300: 4.0423e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 215
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GenotypeQuality
all individuals: 39
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variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.783102143757881e-3
allele num: 1586
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 4.0423e1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 9.34e0

MQ
type: SiteQuality
SIO_000300: 5.723e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

DP
type: SiteQuality
SIO_000300: 5.8378e4

GenotypeQuality
all individuals: 560
bin: 7.5e0
variant carriers: 156

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 34

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 80

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 101

GenotypeQuality
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GenotypeQuality
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variant carriers: 48

GenotypeQuality
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variant carriers: 65

GenotypeQuality
all individuals: 90
bin: 7.75e1
variant carriers: 75

GenotypeQuality
all individuals: 119
bin: 6.25e1
variant carriers: 84

GenotypeQuality
all individuals: 250
bin: 9.75e1
variant carriers: 173

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

European (Non-Finnish)
type: Population
allele count: 225
allele frequency: 3.419452887537994e-1
allele num: 658
num of homozygotes: 2

Latino
type: Population
allele count: 8
allele frequency: 3.636363636363636e-1
allele num: 22
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.625e-1
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 2.666666666666667e-1
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 2.045454545454546e-1
allele num: 44
num of homozygotes: 0

South Asian
type: Population
allele count: 487
allele frequency: 3.07061790668348e-1
allele num: 1586
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 9.34e0

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 4.0423e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 5.8378e4

MQ
type: SiteQuality
SIO_000300: 5.723e1

African
type: Population
allele count: 1
allele frequency: 2.272727272727273e-2
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.167173252279635e-2
allele num: 658
num of homozygotes: 0

South Asian
type: Population
allele count: 88
allele frequency: 5.548549810844893e-2
allele num: 1586
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.34e0

FS
type: SiteQuality
SIO_000300: 4.0423e1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 5.8378e4

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.25e-2
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.333333333333333e-2
allele num: 30
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 4.0423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 5.8378e4

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.491e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.723e1

QD
type: SiteQuality
SIO_000300: 9.34e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 19
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 5.274261603375527e-4
allele num: 1896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.368e0

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

DP
type: SiteQuality
SIO_000300: 4.7595e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 623
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.519999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
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SIO_000300: 4.4196e4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

VQSLOD
type: SiteQuality
SIO_000300: -9.1e-3

GenotypeQuality
all individuals: 637
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 420
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.4107e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 7.07e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -5.27e-2

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

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

GenotypeQuality
all individuals: 2417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 1.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.336898395721925e-3
allele num: 748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 4.3295e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -1.896e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.503e1

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.873563218390805e-3
allele num: 348
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e0

VQSLOD
type: SiteQuality
SIO_000300: -3.379e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.55e-2

DP
type: SiteQuality
SIO_000300: 4.285e4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1