2-74482870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482870
    reference: chr 2
allele count: 1
allele frequency: 8.344737808338063e-6
allele num: 119836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+32C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+32C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-74482874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482874
    reference: chr 2
allele count: 20
allele frequency: 1.669031127430527e-4
allele num: 119830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+28G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+28G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-74482875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482875
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482875
    reference: chr 2
allele count: 2
allele frequency: 1.666861133798943e-5
allele num: 119986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+27C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+27C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+27C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17511
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-74482877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482877
    reference: chr 2
allele count: 2
allele frequency: 1.666361167119361e-5
allele num: 120022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+25C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+25C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+25C>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17771
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-74482879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482879
    reference: chr 2
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+23C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+23C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29133
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-74482884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482884
    reference: chr 2
allele count: 11
allele frequency: 9.14183135814371e-5
allele num: 120326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+18C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+18C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-74482891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482891
    reference: chr 2
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+11T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+11T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-74482892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482892
    reference: chr 2
allele count: 21216
allele frequency: 1.759700081283281e-1
allele num: 120566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.833+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1613+10A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.833+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1830+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1025+10A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.75e1
  variant carriers: 1462
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 3.25e1
  variant carriers: 2003
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 5.75e1
  variant carriers: 1405
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 4.25e1
  variant carriers: 2355
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 2.25e1
  variant carriers: 777
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.25e1
  variant carriers: 1001
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 6.75e1
  variant carriers: 806
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 2300
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.75e1
  variant carriers: 2102
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.25e1
  variant carriers: 1786
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.75e1
  variant carriers: 800
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.75e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 581
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 6.75e1
  variant carriers: 51
num of homozygotes: 2277
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

2-74482903-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482903
    reference: chr 2
allele count: 1
allele frequency: 8.267742575567167e-6
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1612A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1024A>C
  hgvsp: ENST00000346834.4:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.832A>C
  hgvsp: ENST00000359484.4:c.832A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1024A>C
  hgvsp: ENST00000423644.1:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1024A>C
  hgvsp: ENST00000425249.1:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1829A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1024A>C
  hgvsp: ENST00000377634.4:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1024A>C
  hgvsp: ENST00000377632.1:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.832A>C
  hgvsp: ENST00000358683.4:c.832A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1024A>C
  hgvsp: ENST00000357822.5:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1024A>C
  hgvsp: ENST00000394019.2:c.1024A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1024A>C
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-74482907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482907
    reference: chr 2
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1020C>T
  hgvsp: ENST00000377634.4:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1825C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1608C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.828C>T
  hgvsp: ENST00000358683.4:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.828C>T
  hgvsp: ENST00000359484.4:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1020C>T
  hgvsp: ENST00000357822.5:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1020C>T
  hgvsp: ENST00000425249.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1020C>T
  hgvsp: ENST00000394019.2:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1020C>T
  hgvsp: ENST00000423644.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1020C>T
  hgvsp: ENST00000346834.4:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1020C>T
  hgvsp: ENST00000377632.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro340Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-74482915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482915
    reference: chr 2
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.820C>T
  hgvsp: ENSP00000351513.4:p.Pro274Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1012C>T
  hgvsp: ENSP00000405678.1:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.820C>T
  hgvsp: ENSP00000352461.4:p.Pro274Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1600C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1012C>T
  hgvsp: ENSP00000350475.5:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1012C>T
  hgvsp: ENSP00000366861.4:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1012C>T
  hgvsp: ENSP00000251768.6:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1012C>T
  hgvsp: ENSP00000395804.1:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1012C>T
  hgvsp: ENSP00000366859.1:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1817C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1012C>T
  hgvsp: ENSP00000377587.2:p.Pro338Ser
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro338Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-74482922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482922
    reference: chr 2
allele count: 4
allele frequency: 3.301528607745386e-5
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.813C>T
  hgvsp: ENST00000359484.4:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.1005C>T
  hgvsp: ENST00000357822.5:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.1005C>T
  hgvsp: ENST00000377634.4:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.1005C>T
  hgvsp: ENST00000425249.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.1005C>T
  hgvsp: ENST00000423644.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1593C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.813C>T
  hgvsp: ENST00000358683.4:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1810C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.1005C>T
  hgvsp: ENST00000377632.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.1005C>T
  hgvsp: ENST00000394019.2:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.1005C>T
  hgvsp: ENST00000346834.4:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr335Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

2-74482943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482943
    reference: chr 2
allele count: 3
allele frequency: 2.474471700291988e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.792G>A
  hgvsp: ENST00000358683.4:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1572G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.984G>A
  hgvsp: ENST00000394019.2:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.984G>A
  hgvsp: ENST00000377632.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.984G>A
  hgvsp: ENST00000357822.5:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.792G>A
  hgvsp: ENST00000359484.4:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.984G>A
  hgvsp: ENST00000423644.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1789G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.984G>A
  hgvsp: ENST00000425249.1:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.984G>A
  hgvsp: ENST00000377634.4:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.984G>A
  hgvsp: ENST00000346834.4:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser328Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-74482950-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482950
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482950
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.977T>A
  hgvsp: ENSP00000366859.1:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.977T>A
  hgvsp: ENSP00000405678.1:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1565T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.977T>A
  hgvsp: ENSP00000251768.6:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1782T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.785T>A
  hgvsp: ENSP00000352461.4:p.Ile262Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.977T>A
  hgvsp: ENSP00000377587.2:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.785T>A
  hgvsp: ENSP00000351513.4:p.Ile262Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.977T>A
  hgvsp: ENSP00000366861.4:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.977T>A
  hgvsp: ENSP00000350475.5:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.977T>A
  hgvsp: ENSP00000395804.1:p.Ile326Asn
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile326Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-74482956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482956
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482956
    reference: chr 2
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.971G>A
  hgvsp: ENSP00000366861.4:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.971G>A
  hgvsp: ENSP00000405678.1:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.971G>A
  hgvsp: ENSP00000366859.1:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.971G>A
  hgvsp: ENSP00000251768.6:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1776G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.971G>A
  hgvsp: ENSP00000350475.5:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.779G>A
  hgvsp: ENSP00000351513.4:p.Arg260His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.779G>A
  hgvsp: ENSP00000352461.4:p.Arg260His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.971G>A
  hgvsp: ENSP00000395804.1:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1559G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.971G>A
  hgvsp: ENSP00000377587.2:p.Arg324His
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg324His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-74482957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482957
    reference: chr 2
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.970C>T
  hgvsp: ENSP00000350475.5:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.970C>T
  hgvsp: ENSP00000366861.4:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.778C>T
  hgvsp: ENSP00000351513.4:p.Arg260Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.970C>T
  hgvsp: ENSP00000377587.2:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.778C>T
  hgvsp: ENSP00000352461.4:p.Arg260Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.970C>T
  hgvsp: ENSP00000395804.1:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.970C>T
  hgvsp: ENSP00000251768.6:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.970C>T
  hgvsp: ENSP00000405678.1:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.970C>T
  hgvsp: ENSP00000366859.1:p.Arg324Cys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1775C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1558C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg324Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-74482960-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482960
    reference: chr 2
allele count: 4
allele frequency: 3.298479400996141e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.967G>A
  hgvsp: ENSP00000366859.1:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.967G>A
  hgvsp: ENSP00000251768.6:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.967G>A
  hgvsp: ENSP00000395804.1:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.967G>A
  hgvsp: ENSP00000366861.4:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.967G>A
  hgvsp: ENSP00000377587.2:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.775G>A
  hgvsp: ENSP00000351513.4:p.Val259Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.967G>A
  hgvsp: ENSP00000350475.5:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.775G>A
  hgvsp: ENSP00000352461.4:p.Val259Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.967G>A
  hgvsp: ENSP00000405678.1:p.Val323Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1772G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1555G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Val323Met
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-74482961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482961
    reference: chr 2
allele count: 7
allele frequency: 5.772338951743246e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.966C>T
  hgvsp: ENST00000423644.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.966C>T
  hgvsp: ENST00000377632.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.774C>T
  hgvsp: ENST00000358683.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1771C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.966C>T
  hgvsp: ENST00000357822.5:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.966C>T
  hgvsp: ENST00000346834.4:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.966C>T
  hgvsp: ENST00000394019.2:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.966C>T
  hgvsp: ENST00000377634.4:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1554C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.966C>T
  hgvsp: ENST00000425249.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.774C>T
  hgvsp: ENST00000359484.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe322Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-74482964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482964
    reference: chr 2
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.771G>A
  hgvsp: ENST00000359484.4:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.963G>A
  hgvsp: ENST00000357822.5:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1768G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.963G>A
  hgvsp: ENST00000394019.2:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.963G>A
  hgvsp: ENST00000425249.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1551G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.963G>A
  hgvsp: ENST00000346834.4:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.963G>A
  hgvsp: ENST00000423644.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.771G>A
  hgvsp: ENST00000358683.4:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.963G>A
  hgvsp: ENST00000377632.1:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.963G>A
  hgvsp: ENST00000377634.4:c.963G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala321Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-74482965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482965
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.962C>T
  hgvsp: ENSP00000366861.4:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.962C>T
  hgvsp: ENSP00000395804.1:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.962C>T
  hgvsp: ENSP00000350475.5:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1550C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.770C>T
  hgvsp: ENSP00000351513.4:p.Ala257Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.962C>T
  hgvsp: ENSP00000377587.2:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1767C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.770C>T
  hgvsp: ENSP00000352461.4:p.Ala257Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.962C>T
  hgvsp: ENSP00000366859.1:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.962C>T
  hgvsp: ENSP00000405678.1:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.962C>T
  hgvsp: ENSP00000251768.6:p.Ala321Val
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala321Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-74482966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482966
    reference: chr 2
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.961G>A
  hgvsp: ENSP00000405678.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.961G>A
  hgvsp: ENSP00000395804.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.961G>A
  hgvsp: ENSP00000366859.1:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.961G>A
  hgvsp: ENSP00000366861.4:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.961G>A
  hgvsp: ENSP00000377587.2:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.961G>A
  hgvsp: ENSP00000350475.5:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1549G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.769G>A
  hgvsp: ENSP00000351513.4:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.769G>A
  hgvsp: ENSP00000352461.4:p.Ala257Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1766G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.961G>A
  hgvsp: ENSP00000251768.6:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala321Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-74482967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482967
    reference: chr 2
allele count: 7
allele frequency: 5.771862992463596e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1765C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.768C>T
  hgvsp: ENST00000358683.4:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.960C>T
  hgvsp: ENST00000357822.5:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.960C>T
  hgvsp: ENST00000394019.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.960C>T
  hgvsp: ENST00000423644.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.960C>T
  hgvsp: ENST00000377632.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.960C>T
  hgvsp: ENST00000425249.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.768C>T
  hgvsp: ENST00000359484.4:c.768C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.960C>T
  hgvsp: ENST00000377634.4:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.960C>T
  hgvsp: ENST00000346834.4:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1548C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile320Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-74482968-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482968
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.767T>G
  hgvsp: ENSP00000351513.4:p.Ile256Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.959T>G
  hgvsp: ENSP00000395804.1:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.767T>G
  hgvsp: ENSP00000352461.4:p.Ile256Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1764T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.959T>G
  hgvsp: ENSP00000405678.1:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1547T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.959T>G
  hgvsp: ENSP00000377587.2:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.959T>G
  hgvsp: ENSP00000366861.4:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.959T>G
  hgvsp: ENSP00000350475.5:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.959T>G
  hgvsp: ENSP00000366859.1:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.959T>G
  hgvsp: ENSP00000251768.6:p.Ile320Ser
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile320Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

2-74482968-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482968
    reference: chr 2
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.767T>C
  hgvsp: ENSP00000352461.4:p.Ile256Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.959T>C
  hgvsp: ENSP00000377587.2:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.767T>C
  hgvsp: ENSP00000351513.4:p.Ile256Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.959T>C
  hgvsp: ENSP00000366861.4:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1547T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1764T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.959T>C
  hgvsp: ENSP00000405678.1:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.959T>C
  hgvsp: ENSP00000251768.6:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.959T>C
  hgvsp: ENSP00000366859.1:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.959T>C
  hgvsp: ENSP00000395804.1:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.959T>C
  hgvsp: ENSP00000350475.5:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile320Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-74482975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482975
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482975
    reference: chr 2
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.952C>T
  hgvsp: ENSP00000350475.5:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1540C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.760C>T
  hgvsp: ENSP00000352461.4:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.952C>T
  hgvsp: ENSP00000251768.6:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.760C>T
  hgvsp: ENSP00000351513.4:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.952C>T
  hgvsp: ENSP00000377587.2:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.952C>T
  hgvsp: ENSP00000366861.4:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.952C>T
  hgvsp: ENSP00000405678.1:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.952C>T
  hgvsp: ENSP00000366859.1:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1757C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.952C>T
  hgvsp: ENSP00000395804.1:p.Pro318Ser
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro318Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-74482980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482980
    reference: chr 2
allele count: 23
allele frequency: 1.906814790250373e-4
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.947A>C
  hgvsp: ENSP00000395804.1:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.947A>C
  hgvsp: ENSP00000251768.6:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.947A>C
  hgvsp: ENSP00000350475.5:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.947A>C
  hgvsp: ENSP00000366859.1:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.947A>C
  hgvsp: ENSP00000366861.4:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.947A>C
  hgvsp: ENSP00000405678.1:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.755A>C
  hgvsp: ENSP00000352461.4:p.Asp252Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1535A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.947A>C
  hgvsp: ENSP00000377587.2:p.Asp316Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.755A>C
  hgvsp: ENSP00000351513.4:p.Asp252Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1752A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16538
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp316Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-74482991-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482990
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.935delT
  hgvsp: ENSP00000377587.2:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.935delT
  hgvsp: ENSP00000366859.1:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.743delT
  hgvsp: ENSP00000352461.4:p.Val248GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.935delT
  hgvsp: ENSP00000366861.4:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.743delT
  hgvsp: ENSP00000351513.4:p.Val248GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.935delT
  hgvsp: ENSP00000350475.5:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.935delT
  hgvsp: ENSP00000405678.1:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.935delT
  hgvsp: ENSP00000395804.1:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1740delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1523delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.935delT
  hgvsp: ENSP00000251768.6:p.Val312GlyfsTer4
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val312GlyfsTer4
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: CA
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-74482992-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482992
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482992
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.935T>G
  hgvsp: ENSP00000377587.2:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.935T>G
  hgvsp: ENSP00000251768.6:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.935T>G
  hgvsp: ENSP00000395804.1:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.743T>G
  hgvsp: ENSP00000351513.4:p.Val248Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.935T>G
  hgvsp: ENSP00000366859.1:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.743T>G
  hgvsp: ENSP00000352461.4:p.Val248Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.935T>G
  hgvsp: ENSP00000366861.4:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.935T>G
  hgvsp: ENSP00000405678.1:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.935T>G
  hgvsp: ENSP00000350475.5:p.Val312Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1740T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1523T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val312Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-74482997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482997
    reference: chr 2
allele count: 26
allele frequency: 2.14493136219641e-4
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.930C>T
  hgvsp: ENST00000425249.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.930C>T
  hgvsp: ENST00000346834.4:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.930C>T
  hgvsp: ENST00000377634.4:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.930C>T
  hgvsp: ENST00000377632.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.930C>T
  hgvsp: ENST00000423644.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.930C>T
  hgvsp: ENST00000394019.2:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1518C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1735C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.738C>T
  hgvsp: ENST00000358683.4:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.930C>T
  hgvsp: ENST00000357822.5:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.738C>T
  hgvsp: ENST00000359484.4:c.738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16631
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly310Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-74482997-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74482997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74482997
    reference: chr 2
allele count: 21
allele frequency: 1.732444561774023e-4
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.930C>A
  hgvsp: ENST00000377634.4:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.930C>A
  hgvsp: ENST00000357822.5:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.930C>A
  hgvsp: ENST00000425249.1:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.738C>A
  hgvsp: ENST00000358683.4:c.738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.930C>A
  hgvsp: ENST00000346834.4:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.930C>A
  hgvsp: ENST00000377632.1:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.930C>A
  hgvsp: ENST00000394019.2:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.930C>A
  hgvsp: ENST00000423644.1:c.930C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1735C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.738C>A
  hgvsp: ENST00000359484.4:c.738C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1518C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly310Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-74483002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483002
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.925G>A
  hgvsp: ENSP00000395804.1:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.925G>A
  hgvsp: ENSP00000366859.1:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.733G>A
  hgvsp: ENSP00000351513.4:p.Val245Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.925G>A
  hgvsp: ENSP00000405678.1:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.733G>A
  hgvsp: ENSP00000352461.4:p.Val245Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.925G>A
  hgvsp: ENSP00000366861.4:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.925G>A
  hgvsp: ENSP00000251768.6:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1730G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1513G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.925G>A
  hgvsp: ENSP00000377587.2:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.925G>A
  hgvsp: ENSP00000350475.5:p.Val309Met
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val309Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-74483003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483003
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.732C>T
  hgvsp: ENST00000358683.4:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.924C>T
  hgvsp: ENST00000423644.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.924C>T
  hgvsp: ENST00000377632.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.924C>T
  hgvsp: ENST00000425249.1:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.732C>T
  hgvsp: ENST00000359484.4:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.924C>T
  hgvsp: ENST00000357822.5:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1512C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.924C>T
  hgvsp: ENST00000394019.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.924C>T
  hgvsp: ENST00000377634.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.924C>T
  hgvsp: ENST00000346834.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1729C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu308Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-74483008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483008
    reference: chr 2
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.727G>A
  hgvsp: ENSP00000352461.4:p.Val243Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1724G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.919G>A
  hgvsp: ENSP00000377587.2:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.919G>A
  hgvsp: ENSP00000350475.5:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.727G>A
  hgvsp: ENSP00000351513.4:p.Val243Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.919G>A
  hgvsp: ENSP00000366861.4:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.919G>A
  hgvsp: ENSP00000251768.6:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.919G>A
  hgvsp: ENSP00000366859.1:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.919G>A
  hgvsp: ENSP00000405678.1:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.919G>A
  hgvsp: ENSP00000395804.1:p.Val307Met
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1507G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val307Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-74483009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483009
    reference: chr 2
allele count: 7
allele frequency: 5.775863491591993e-5
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.918C>T
  hgvsp: ENST00000423644.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.918C>T
  hgvsp: ENST00000377634.4:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.918C>T
  hgvsp: ENST00000394019.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1723C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1506C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.918C>T
  hgvsp: ENST00000346834.4:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.918C>T
  hgvsp: ENST00000357822.5:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.726C>T
  hgvsp: ENST00000358683.4:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.918C>T
  hgvsp: ENST00000377632.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.918C>T
  hgvsp: ENST00000425249.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.726C>T
  hgvsp: ENST00000359484.4:c.726C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn306Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-74483010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483010
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.917A>G
  hgvsp: ENSP00000395804.1:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.725A>G
  hgvsp: ENSP00000352461.4:p.Asn242Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.917A>G
  hgvsp: ENSP00000350475.5:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.725A>G
  hgvsp: ENSP00000351513.4:p.Asn242Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.917A>G
  hgvsp: ENSP00000405678.1:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1722A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1505A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.917A>G
  hgvsp: ENSP00000377587.2:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.917A>G
  hgvsp: ENSP00000366859.1:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.917A>G
  hgvsp: ENSP00000366861.4:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.917A>G
  hgvsp: ENSP00000251768.6:p.Asn306Ser
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn306Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-74483015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483015
    reference: chr 2
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.912G>A
  hgvsp: ENST00000423644.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.720G>A
  hgvsp: ENST00000359484.4:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.912G>A
  hgvsp: ENST00000394019.2:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.912G>A
  hgvsp: ENST00000357822.5:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.912G>A
  hgvsp: ENST00000346834.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.912G>A
  hgvsp: ENST00000377634.4:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1717G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1500G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.912G>A
  hgvsp: ENST00000425249.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.720G>A
  hgvsp: ENST00000358683.4:c.720G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.912G>A
  hgvsp: ENST00000377632.1:c.912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala304Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-74483016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483016
    reference: chr 2
allele count: 2
allele frequency: 1.650573574317075e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1499C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.911C>T
  hgvsp: ENSP00000395804.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.911C>T
  hgvsp: ENSP00000377587.2:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.911C>T
  hgvsp: ENSP00000366861.4:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.911C>T
  hgvsp: ENSP00000405678.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.719C>T
  hgvsp: ENSP00000351513.4:p.Ala240Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.719C>T
  hgvsp: ENSP00000352461.4:p.Ala240Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.911C>T
  hgvsp: ENSP00000251768.6:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.911C>T
  hgvsp: ENSP00000350475.5:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.911C>T
  hgvsp: ENSP00000366859.1:p.Ala304Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1716C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala304Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-74483029-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483028
    reference: chr 2
allele count: 2
allele frequency: 1.651855033202286e-5
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.897delC
  hgvsp: ENSP00000251768.6:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.897delC
  hgvsp: ENSP00000366861.4:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.705delC
  hgvsp: ENSP00000352461.4:p.Lys236ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.897delC
  hgvsp: ENSP00000366859.1:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.897delC
  hgvsp: ENSP00000395804.1:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1485delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1702delC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.897delC
  hgvsp: ENSP00000405678.1:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.705delC
  hgvsp: ENSP00000351513.4:p.Lys236ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.897delC
  hgvsp: ENSP00000350475.5:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.897delC
  hgvsp: ENSP00000377587.2:p.Lys300ArgfsTer16
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys300ArgfsTer16
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: TG
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-74483031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483031
    reference: chr 2
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.704C>G
  hgvsp: ENSP00000352461.4:p.Pro235Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.896C>G
  hgvsp: ENSP00000395804.1:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.896C>G
  hgvsp: ENSP00000405678.1:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.896C>G
  hgvsp: ENSP00000350475.5:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.896C>G
  hgvsp: ENSP00000366861.4:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.896C>G
  hgvsp: ENSP00000366859.1:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.704C>G
  hgvsp: ENSP00000351513.4:p.Pro235Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1701C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.896C>G
  hgvsp: ENSP00000251768.6:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1484C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.896C>G
  hgvsp: ENSP00000377587.2:p.Pro299Arg
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro299Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-74483033-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483034
    reference: chr 2
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.701dupT
  hgvsp: ENSP00000352461.4:p.Lys236GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.701dupT
  hgvsp: ENSP00000351513.4:p.Lys236GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.893dupT
  hgvsp: ENSP00000366861.4:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.893dupT
  hgvsp: ENSP00000350475.5:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.893dupT
  hgvsp: ENSP00000366859.1:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.893dupT
  hgvsp: ENSP00000405678.1:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.893dupT
  hgvsp: ENSP00000251768.6:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1481dupT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.893dupT
  hgvsp: ENSP00000395804.1:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1698dupT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.893dupT
  hgvsp: ENSP00000377587.2:p.Lys300GlnfsTer60
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys300GlnfsTer60
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-74483042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483042
    reference: chr 2
allele count: 7
allele frequency: 5.791058605513088e-5
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.885G>A
  hgvsp: ENSP00000366859.1:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.693G>A
  hgvsp: ENSP00000352461.4:p.Met231Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.885G>A
  hgvsp: ENSP00000405678.1:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.885G>A
  hgvsp: ENSP00000395804.1:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.885G>A
  hgvsp: ENSP00000366861.4:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.693G>A
  hgvsp: ENSP00000351513.4:p.Met231Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.885G>A
  hgvsp: ENSP00000377587.2:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.885G>A
  hgvsp: ENSP00000251768.6:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.885G>A
  hgvsp: ENSP00000350475.5:p.Met295Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1690G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1473G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met295Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-74483045-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483045
    reference: chr 2
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.690C>G
  hgvsp: ENSP00000351513.4:p.Phe230Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.882C>G
  hgvsp: ENSP00000251768.6:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.882C>G
  hgvsp: ENSP00000350475.5:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.882C>G
  hgvsp: ENSP00000366861.4:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.882C>G
  hgvsp: ENSP00000395804.1:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.882C>G
  hgvsp: ENSP00000377587.2:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.882C>G
  hgvsp: ENSP00000405678.1:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.882C>G
  hgvsp: ENSP00000366859.1:p.Phe294Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1687C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.690C>G
  hgvsp: ENSP00000352461.4:p.Phe230Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1470C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe294Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-74483048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483048
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.879A>G
  hgvsp: ENST00000423644.1:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.687A>G
  hgvsp: ENST00000359484.4:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.879A>G
  hgvsp: ENST00000357822.5:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.879A>G
  hgvsp: ENST00000377632.1:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1684A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.879A>G
  hgvsp: ENST00000425249.1:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.879A>G
  hgvsp: ENST00000377634.4:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.879A>G
  hgvsp: ENST00000346834.4:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1467A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.879A>G
  hgvsp: ENST00000394019.2:c.879A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.687A>G
  hgvsp: ENST00000358683.4:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys293Lys
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: T
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-74483048-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483048
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483048
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.879A>C
  hgvsp: ENSP00000405678.1:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.687A>C
  hgvsp: ENSP00000351513.4:p.Lys229Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.879A>C
  hgvsp: ENSP00000251768.6:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.879A>C
  hgvsp: ENSP00000350475.5:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1467A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.879A>C
  hgvsp: ENSP00000395804.1:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.687A>C
  hgvsp: ENSP00000352461.4:p.Lys229Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.879A>C
  hgvsp: ENSP00000366859.1:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.879A>C
  hgvsp: ENSP00000366861.4:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.879A>C
  hgvsp: ENSP00000377587.2:p.Lys293Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1684A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys293Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-74483058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483058
    reference: chr 2
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.869G>A
  hgvsp: ENSP00000395804.1:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1674G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.677G>A
  hgvsp: ENSP00000352461.4:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.869G>A
  hgvsp: ENSP00000366861.4:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.869G>A
  hgvsp: ENSP00000350475.5:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.869G>A
  hgvsp: ENSP00000405678.1:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.869G>A
  hgvsp: ENSP00000366859.1:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.677G>A
  hgvsp: ENSP00000351513.4:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.869G>A
  hgvsp: ENSP00000377587.2:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.869G>A
  hgvsp: ENSP00000251768.6:p.Arg290Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1457G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg290Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-74483059-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483059
    reference: chr 2
allele count: 2
allele frequency: 1.663644379377464e-5
allele num: 120218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868C>T
  hgvsp: ENSP00000350475.5:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868C>T
  hgvsp: ENSP00000405678.1:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676C>T
  hgvsp: ENSP00000351513.4:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868C>T
  hgvsp: ENSP00000366859.1:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868C>T
  hgvsp: ENSP00000251768.6:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676C>T
  hgvsp: ENSP00000352461.4:p.Arg226Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868C>T
  hgvsp: ENSP00000395804.1:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868C>T
  hgvsp: ENSP00000366861.4:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868C>T
  hgvsp: ENSP00000377587.2:p.Arg290Trp
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg290Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-74483065-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483064
    reference: chr 2
allele count: 1
allele frequency: 8.333055564814507e-6
allele num: 120004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-7delT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-7delT
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.868-7delT
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: CA
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-74483071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483071
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483071
    reference: chr 2
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-12C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-12C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-12C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-74483072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483072
    reference: chr 2
allele count: 1
allele frequency: 8.357849692431131e-6
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-13C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-13C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-74483078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483078
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483078
    reference: chr 2
allele count: 8
allele frequency: 6.702525176360194e-5
allele num: 119358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-19G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-19G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22248
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-74483086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483086
    reference: chr 2
allele count: 1
allele frequency: 8.403643819960336e-6
allele num: 118996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-27G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-27G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-27G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-74483088-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483088
    reference: chr 2
allele count: 4
allele frequency: 3.362079109721452e-5
allele num: 118974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-29T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-29T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-29T>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

2-74483095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483095
    reference: chr 2
allele count: 1
allele frequency: 8.449228585430151e-6
allele num: 118354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-36G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-36G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-74483100-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483100
    reference: chr 2
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-41T>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-41T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-41T>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-74483100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483100
    reference: chr 2
allele count: 4
allele frequency: 3.38862438792972e-5
allele num: 118042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-41T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-41T>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/2-74483101-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483101
    reference: chr 2
allele count: 1
allele frequency: 8.4774499830451e-6
allele num: 117960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-42G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-42G>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-42G>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14735
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-74483104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483104
    reference: chr 2
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-45C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-45C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-74483107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483107
    reference: chr 2
allele count: 1
allele frequency: 8.62931897414656e-6
allele num: 115884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-48G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-48G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-48G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-74483108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74483108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74483108
    reference: chr 2
allele count: 4
allele frequency: 3.448513690599352e-5
allele num: 115992
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1456-49A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.676-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1673-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.676-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.868-49A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

2-74486666-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486666
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+49A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+49A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-74486686-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486686
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+29T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+29T>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-74486687-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486687
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+28A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+28A>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-74486687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486687
    reference: chr 2
allele count: 14
allele frequency: 1.153098540506704e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+28A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+28A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

2-74486689-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486689
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+26C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+26C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+26C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

2-74486692-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486692
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+23C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+23C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+23C>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-74486694-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486694
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+21A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+21A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-74486697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486697
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+18C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+18C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-74486698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74486698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74486698
    reference: chr 2
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000405678
  ensembl transcript: ENST00000425249
  gene symbol: SLC4A5
  hgvsc: ENST00000425249.1:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.675+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.675+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.1672+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.867+17A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*1455+17A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 663
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8118
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.245316012990258e-5
allele num: 16012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.71888e6

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.458e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.262e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.535e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.401e0

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

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2438
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6713
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 2995
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.022152376922845e-4
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 4.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.152e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.730584e6

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6702
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8348
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.219679064560268e-5
allele num: 16078
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510163399679845e-5
allele num: 66218
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.612e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

DP
type: SiteQuality
SIO_000300: 1.734464e6

FS
type: SiteQuality
SIO_000300: 1.981e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3404
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1215
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GenotypeQuality
all individuals: 392
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

DP
type: SiteQuality
SIO_000300: 1.7412e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 3.165e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

FS
type: SiteQuality
SIO_000300: 3.814e0

DP
type: SiteQuality
SIO_000300: 1.74507e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 4.78e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.558567952728537e-4
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.756342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.328e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.911e0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

GenotypeQuality
all individuals: 1500
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2518
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GenotypeQuality
all individuals: 3477
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.128e-1

DP
type: SiteQuality
SIO_000300: 1.772182e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 9.24e0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 575
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variant carriers: 91

GenotypeQuality
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GenotypeQuality
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variant carriers: 70

GenotypeQuality
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variant carriers: 19

GenotypeQuality
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variant carriers: 30

GenotypeQuality
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GenotypeQuality
all individuals: 290
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GenotypeQuality
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
all individuals: 1833
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variant carriers: 39

GenotypeQuality
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 1110
bin: 8.25e1
variant carriers: 80

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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variant carriers: 64

GenotypeQuality
all individuals: 26008
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variant carriers: 46

GenotypeQuality
all individuals: 20268
bin: 9.75e1
variant carriers: 18369

Latino
type: Population
allele count: 919
allele frequency: 7.974661575841721e-2
allele num: 11524
num of homozygotes: 37

European (Finnish)
type: Population
allele count: 716
allele frequency: 1.115612340292926e-1
allele num: 6418
num of homozygotes: 41

East Asian
type: Population
allele count: 3355
allele frequency: 3.903886432394694e-1
allele num: 8594
num of homozygotes: 652

South Asian
type: Population
allele count: 3168
allele frequency: 1.934065934065934e-1
allele num: 16380
num of homozygotes: 305

African
type: Population
allele count: 3233
allele frequency: 3.122464747923508e-1
allele num: 10354
num of homozygotes: 504

Other
type: Population
allele count: 159
allele frequency: 1.778523489932886e-1
allele num: 894
num of homozygotes: 13

European (Non-Finnish)
type: Population
allele count: 9666
allele frequency: 1.455679045811873e-1
allele num: 66402
num of homozygotes: 725

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 2.088051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.68e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.573e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 675
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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ClippingRankSum
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FS
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QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 1.738507e6

BaseQRankSum
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SIO_000300: -2.342e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3438
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 1.740378e6

FS
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SIO_000300: 5.482e0

ClippingRankSum
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SIO_000300: 1.51e-1

ReadPosRankSum
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SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 5.2e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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SIO_000300: 8.69e-1

MQRankSum
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SIO_000300: -2.5e-2

DP
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SIO_000300: 1.743022e6

VQSLOD
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SIO_000300: -2.658e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.745673e6

FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -9.16e-1

QD
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SIO_000300: 1.273e1

InbreedingCoeff
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SIO_000300: 3.0e-4

MQ
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SIO_000300: 5.966e1

ClippingRankSum
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SIO_000300: -8.3e-2

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

East Asian
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ClippingRankSum
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SIO_000300: 5.1e-2

BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.988e1

VQSLOD
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SIO_000300: 1.81e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

Other
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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
allele num: 11560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: 5.69e-1

ClippingRankSum
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QD
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DP
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FS
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ReadPosRankSum
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MQ
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SIO_000300: 5.946e1

VQSLOD
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SIO_000300: 2.99e0

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.58e-1

DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
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

South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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ReadPosRankSum
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SIO_000300: 2.44e-1

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

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

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

African
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allele frequency: 2.884615384615385e-4
allele num: 10400
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East Asian
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num of homozygotes: 0

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

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

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

Latino
type: Population
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num of homozygotes: 0

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

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

European (Non-Finnish)
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South Asian
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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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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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African
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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MQ
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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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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.749055e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
all individuals: 72
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2660
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 196
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2709
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 37368
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1616
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.880877742946708e-3
allele num: 6380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.041318827039571e-5
allele num: 66362
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.911490683229814e-4
allele num: 10304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.42911e2

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.692e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.753557e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.723e0

QD
type: SiteQuality
SIO_000300: 5.5e-1

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

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 4.073e0

DP
type: SiteQuality
SIO_000300: 1.747123e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeDepth
all individuals: 16594
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3358
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9835
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.311e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.441e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e0

DP
type: SiteQuality
SIO_000300: 1.747166e6

GenotypeDepth
all individuals: 1512
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 38111
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 2743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-4
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.14918121288465e-4
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 1.747939e6

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1638
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.056234718826406e-4
allele num: 6544
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.699298182472557e-4
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 8648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.747939e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.172e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.057e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeDepth
all individuals: 9605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9828
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.559e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

DP
type: SiteQuality
SIO_000300: 1.746426e6

GenotypeDepth
all individuals: 140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9825
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3341
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 16492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.746221e6

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Other
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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SIO_000300: 1.745864e6

VQSLOD
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SIO_000300: 5.82e-1

ReadPosRankSum
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SIO_000300: 9.13e-1

FS
type: SiteQuality
SIO_000300: 7.34e-1

BaseQRankSum
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SIO_000300: 8.169999999999999e-1

QD
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SIO_000300: 1.037e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499235130027895e-5
allele num: 66678
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
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East Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
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SIO_000300: 1.746051e6

BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 2.56e0

FS
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SIO_000300: 5.35e-1

ClippingRankSum
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SIO_000300: -4.1e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

European (Finnish)
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Other
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South Asian
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East Asian
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BaseQRankSum
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SIO_000300: 3.87e0

MQ
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 9.48e-1

GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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num of homozygotes: 0

South Asian
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African
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Other
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MQRankSum
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 0.0e0

MQ
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ClippingRankSum
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SIO_000300: -4.06e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

East 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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num of homozygotes: 0

European (Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

East Asian
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allele num: 8640
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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Other
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: -7.076e-1

QD
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MQ
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: 1.06e0

ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
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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

European (Finnish)
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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

European (Non-Finnish)
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allele frequency: 1.503985561738607e-5
allele num: 66490
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Other
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ClippingRankSum
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SIO_000300: -5.69e-1

QD
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

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

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: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

European (Finnish)
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South Asian
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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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

QD
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.691777e6

QD
type: SiteQuality
SIO_000300: 1.21e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2846
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 8344
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.661629e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.475e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
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variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65990
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 1.660774e6

VQSLOD
type: SiteQuality
SIO_000300: -4.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1563
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.942124684404739e-4
allele num: 10298
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168224299065421e-4
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.589095986886043e-5
allele num: 65884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.849e0

DP
type: SiteQuality
SIO_000300: 1.628492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 836
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
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GenotypeQuality
all individuals: 27115
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1387
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 2111
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
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variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521051350693599e-5
allele num: 65744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.843e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 3.708e0

DP
type: SiteQuality
SIO_000300: 1.571582e6

QD
type: SiteQuality
SIO_000300: 9.23e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 588
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26365
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 2753
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 905
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 799
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GenotypeQuality
all individuals: 3287
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 746
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7340
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.084760716784813e-5
allele num: 65738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.558499e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 8.045999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 1.197e1

GenotypeQuality
all individuals: 741
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.487138e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
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GenotypeQuality
all individuals: 576
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GenotypeQuality
all individuals: 1953
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variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530877805333578e-5
allele num: 65322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 1.4577e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.461794e6

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.592633416000735e-5
allele num: 65322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.45577792123951e-5
allele num: 15490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

DP
type: SiteQuality
SIO_000300: 1.461794e6

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

FS
type: SiteQuality
SIO_000300: 1.4577e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeQuality
all individuals: 5352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.21e-2

QD
type: SiteQuality
SIO_000300: 1.723e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 3.222e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
type: SiteQuality
SIO_000300: 1.461114e6

GenotypeQuality
all individuals: 5347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6542
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3513
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15143
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535343609899896e-5
allele num: 65132
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.452189e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3450
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6404
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3277
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.714113065664025e-5
allele num: 14894
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64344
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

QD
type: SiteQuality
SIO_000300: 1.791e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.428103e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.187e-1

GenotypeQuality
all individuals: 291
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5545
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3451
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.681684097613301e-4
allele num: 14916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

DP
type: SiteQuality
SIO_000300: 1.427543e6

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 1.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

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

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1210
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51527
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1785
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.424e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 3.917402e6

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

GenotypeQuality
all individuals: 1460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
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variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 51529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 3.918018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

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

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1220
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51528
bin: 9.75e1
variant carriers: 1

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

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

African
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East Asian
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allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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Other
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
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QD
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VQSLOD
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SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
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allele num: 66740
num of homozygotes: 0

East Asian
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Other
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.59e-1

FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
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African
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South Asian
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European (Finnish)
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Other
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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SIO_000300: 3.917149e6

MQRankSum
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SIO_000300: -1.76e-1

GenotypeQuality
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variant carriers: 1

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

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

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

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

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

Other
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele num: 66740
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Latino
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East Asian
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MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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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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variant carriers: 0