2-220502388-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502388
    reference: chr 2
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2621G>T
  hgvsp: ENSP00000350756.3:p.Gly874Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1089G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2702G>T
  hgvsp: ENSP00000273063.6:p.Gly901Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2702G>T
  hgvsp: ENSP00000362867.3:p.Gly901Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2621G>T
  hgvsp: ENSP00000314006.3:p.Gly874Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2621G>T
  hgvsp: ENSP00000362865.2:p.Gly874Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1111G>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly901Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-220502394-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502394
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502394
    reference: chr 2
allele count: 2
allele frequency: 1.651254953764861e-5
allele num: 121120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2627C>G
  hgvsp: ENSP00000362865.2:p.Ala876Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1095C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1117C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2627C>G
  hgvsp: ENSP00000350756.3:p.Ala876Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2708C>G
  hgvsp: ENSP00000273063.6:p.Ala903Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2627C>G
  hgvsp: ENSP00000314006.3:p.Ala876Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2708C>G
  hgvsp: ENSP00000362867.3:p.Ala903Gly
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala903Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-220502400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502400
    reference: chr 2
allele count: 5
allele frequency: 4.12779658218443e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2714C>A
  hgvsp: ENSP00000273063.6:p.Pro905His
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2714C>A
  hgvsp: ENSP00000362867.3:p.Pro905His
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2633C>A
  hgvsp: ENSP00000362865.2:p.Pro878His
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2633C>A
  hgvsp: ENSP00000350756.3:p.Pro878His
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2633C>A
  hgvsp: ENSP00000314006.3:p.Pro878His
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1123C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1101C>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24905
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro905His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-220502403-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502403
    reference: chr 2
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2636C>G
  hgvsp: ENSP00000350756.3:p.Pro879Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2717C>G
  hgvsp: ENSP00000273063.6:p.Pro906Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1104C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2636C>G
  hgvsp: ENSP00000362865.2:p.Pro879Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2636C>G
  hgvsp: ENSP00000314006.3:p.Pro879Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2717C>G
  hgvsp: ENSP00000362867.3:p.Pro906Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1126C>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro906Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-220502407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502407
    reference: chr 2
allele count: 249
allele frequency: 2.055235485415256e-3
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1130C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2640C>T
  hgvsp: ENST00000373760.2:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2640C>T
  hgvsp: ENST00000317151.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2721C>T
  hgvsp: ENST00000373762.3:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2640C>T
  hgvsp: ENST00000358055.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1108C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2721C>T
  hgvsp: ENST00000273063.6:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 5932
  bin: 9.75e1
  variant carriers: 245
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr907Thr
num of homozygotes: 3
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220502408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502408
    reference: chr 2
allele count: 7
allele frequency: 5.777388950330962e-5
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2722G>A
  hgvsp: ENSP00000362867.3:p.Glu908Lys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2641G>A
  hgvsp: ENSP00000362865.2:p.Glu881Lys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1131G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1109G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2722G>A
  hgvsp: ENSP00000273063.6:p.Glu908Lys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2641G>A
  hgvsp: ENSP00000350756.3:p.Glu881Lys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2641G>A
  hgvsp: ENSP00000314006.3:p.Glu881Lys
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25114
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu908Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-220502412-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502413
    reference: chr 2
allele count: 20
allele frequency: 1.654725067430047e-4
allele num: 120866
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2652dupC
  hgvsp: ENSP00000350756.3:p.Ser885GlnfsTer83
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2652dupC
  hgvsp: ENSP00000314006.3:p.Ser885GlnfsTer83
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2652dupC
  hgvsp: ENSP00000362865.2:p.Ser885GlnfsTer83
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2733dupC
  hgvsp: ENSP00000273063.6:p.Ser912GlnfsTer83
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1142dupC
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2733dupC
  hgvsp: ENSP00000362867.3:p.Ser912GlnfsTer83
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1120dupC
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5548
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 2
hgvs: p.Ser912GlnfsTer83
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-220502412-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502411
    reference: chr 2
allele count: 2
allele frequency: 1.654725067430047e-5
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2652delC
  hgvsp: ENSP00000362865.2:p.Ser885AlafsTer22
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2733delC
  hgvsp: ENSP00000273063.6:p.Ser912AlafsTer22
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2733delC
  hgvsp: ENSP00000362867.3:p.Ser912AlafsTer22
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1120delC
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2652delC
  hgvsp: ENSP00000350756.3:p.Ser885AlafsTer22
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2652delC
  hgvsp: ENSP00000314006.3:p.Ser885AlafsTer22
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1142delC
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser912AlafsTer22
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: GC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-220502414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502414
    reference: chr 2
allele count: 33
allele frequency: 2.724570673712021e-4
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2647C>T
  hgvsp: ENSP00000314006.3:p.Pro883Ser
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2647C>T
  hgvsp: ENSP00000350756.3:p.Pro883Ser
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2728C>T
  hgvsp: ENSP00000273063.6:p.Pro910Ser
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2647C>T
  hgvsp: ENSP00000362865.2:p.Pro883Ser
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1137C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2728C>T
  hgvsp: ENSP00000362867.3:p.Pro910Ser
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1115C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro910Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

2-220502415-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502415
    reference: chr 2
allele count: 11
allele frequency: 9.076207135549028e-5
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2648C>G
  hgvsp: ENSP00000314006.3:p.Pro883Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2729C>G
  hgvsp: ENSP00000362867.3:p.Pro910Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2729C>G
  hgvsp: ENSP00000273063.6:p.Pro910Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1116C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1138C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2648C>G
  hgvsp: ENSP00000350756.3:p.Pro883Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2648C>G
  hgvsp: ENSP00000362865.2:p.Pro883Arg
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro910Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-220502419-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502419
    reference: chr 2
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1120C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2652C>A
  hgvsp: ENST00000373760.2:c.2652C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2733C>A
  hgvsp: ENST00000273063.6:c.2733C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1142C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2733C>A
  hgvsp: ENST00000373762.3:c.2733C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2652C>A
  hgvsp: ENST00000317151.3:c.2652C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2652C>A
  hgvsp: ENST00000358055.3:c.2652C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro911Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-220502425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502425
    reference: chr 2
allele count: 144
allele frequency: 1.187863989573194e-3
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2658G>A
  hgvsp: ENST00000373760.2:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1126G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2739G>A
  hgvsp: ENST00000273063.6:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1148G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2658G>A
  hgvsp: ENST00000358055.3:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2739G>A
  hgvsp: ENST00000373762.3:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2658G>A
  hgvsp: ENST00000317151.3:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25513
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14417
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro913Pro
num of homozygotes: 1
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-220502426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502426
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2740A>G
  hgvsp: ENSP00000362867.3:p.Arg914Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2740A>G
  hgvsp: ENSP00000273063.6:p.Arg914Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1149A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2659A>G
  hgvsp: ENSP00000314006.3:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2659A>G
  hgvsp: ENSP00000350756.3:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1127A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2659A>G
  hgvsp: ENSP00000362865.2:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg914Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

2-220502431-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502431
    reference: chr 2
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2664C>T
  hgvsp: ENST00000373760.2:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1154C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2745C>T
  hgvsp: ENST00000273063.6:c.2745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1132C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2664C>T
  hgvsp: ENST00000358055.3:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2664C>T
  hgvsp: ENST00000317151.3:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2745C>T
  hgvsp: ENST00000373762.3:c.2745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9532
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn915Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

2-220502443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502443
    reference: chr 2
allele count: 7
allele frequency: 5.771672630728385e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1144G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2676G>A
  hgvsp: ENST00000373760.2:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2757G>A
  hgvsp: ENST00000273063.6:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2676G>A
  hgvsp: ENST00000317151.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2676G>A
  hgvsp: ENST00000358055.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2757G>A
  hgvsp: ENST00000373762.3:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1166G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr919Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-220502444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502444
    reference: chr 2
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2677G>A
  hgvsp: ENSP00000350756.3:p.Ala893Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2758G>A
  hgvsp: ENSP00000273063.6:p.Ala920Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1167G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2758G>A
  hgvsp: ENSP00000362867.3:p.Ala920Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2677G>A
  hgvsp: ENSP00000362865.2:p.Ala893Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1145G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2677G>A
  hgvsp: ENSP00000314006.3:p.Ala893Thr
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala920Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-220502447-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502447
    reference: chr 2
allele count: 5
allele frequency: 4.122351389232418e-5
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1148C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2680C>G
  hgvsp: ENSP00000350756.3:p.Leu894Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2761C>G
  hgvsp: ENSP00000362867.3:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2761C>G
  hgvsp: ENSP00000273063.6:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2680C>G
  hgvsp: ENSP00000314006.3:p.Leu894Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2680C>G
  hgvsp: ENSP00000362865.2:p.Leu894Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1170C>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu921Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-220502450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502450
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2764C>T
  hgvsp: ENSP00000273063.6:p.Leu922Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2683C>T
  hgvsp: ENSP00000350756.3:p.Leu895Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1151C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2683C>T
  hgvsp: ENSP00000314006.3:p.Leu895Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1173C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2764C>T
  hgvsp: ENSP00000362867.3:p.Leu922Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2683C>T
  hgvsp: ENSP00000362865.2:p.Leu895Phe
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33822
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu922Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-220502461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502461
    reference: chr 2
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2694C>A
  hgvsp: ENST00000317151.3:c.2694C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2694C>A
  hgvsp: ENST00000373760.2:c.2694C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1162C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2694C>A
  hgvsp: ENST00000358055.3:c.2694C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1184C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2775C>A
  hgvsp: ENST00000273063.6:c.2775C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2775C>A
  hgvsp: ENST00000373762.3:c.2775C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33834
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile925Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

2-220502468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502468
    reference: chr 2
allele count: 9
allele frequency: 7.419376112906417e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2701C>T
  hgvsp: ENSP00000350756.3:p.Leu901Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2782C>T
  hgvsp: ENSP00000273063.6:p.Leu928Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2701C>T
  hgvsp: ENSP00000362865.2:p.Leu901Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1191C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2701C>T
  hgvsp: ENSP00000314006.3:p.Leu901Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2782C>T
  hgvsp: ENSP00000362867.3:p.Leu928Phe
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1169C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu928Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220502470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502470
    reference: chr 2
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2703C>T
  hgvsp: ENST00000358055.3:c.2703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2784C>T
  hgvsp: ENST00000373762.3:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1193C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2703C>T
  hgvsp: ENST00000317151.3:c.2703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2784C>T
  hgvsp: ENST00000273063.6:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2703C>T
  hgvsp: ENST00000373760.2:c.2703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1171C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33840
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu928Leu
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: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

2-220502476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502476
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2709C>T
  hgvsp: ENST00000373760.2:c.2709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1199C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2709C>T
  hgvsp: ENST00000358055.3:c.2709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2709C>T
  hgvsp: ENST00000317151.3:c.2709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2790C>T
  hgvsp: ENST00000273063.6:c.2790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1177C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2790C>T
  hgvsp: ENST00000373762.3:c.2790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr930Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-220502483-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502483
    reference: chr 2
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2716A>T
  hgvsp: ENSP00000314006.3:p.Ile906Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2797A>T
  hgvsp: ENSP00000362867.3:p.Ile933Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2716A>T
  hgvsp: ENSP00000362865.2:p.Ile906Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2797A>T
  hgvsp: ENSP00000273063.6:p.Ile933Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2716A>T
  hgvsp: ENSP00000350756.3:p.Ile906Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1184A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1206A>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile933Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-220502488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502488
    reference: chr 2
allele count: 3
allele frequency: 2.473737157181259e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2721C>T
  hgvsp: ENST00000317151.3:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2721C>T
  hgvsp: ENST00000358055.3:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2802C>T
  hgvsp: ENST00000373762.3:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1211C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2721C>T
  hgvsp: ENST00000373760.2:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1189C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2802C>T
  hgvsp: ENST00000273063.6:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala934Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

2-220502506-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502506
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502506
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2739C>G
  hgvsp: ENSP00000362865.2:p.Phe913Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2739C>G
  hgvsp: ENSP00000350756.3:p.Phe913Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2820C>G
  hgvsp: ENSP00000273063.6:p.Phe940Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2739C>G
  hgvsp: ENSP00000314006.3:p.Phe913Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2820C>G
  hgvsp: ENSP00000362867.3:p.Phe940Leu
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1207C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1229C>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe940Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-220502511-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502511
    reference: chr 2
allele count: 937
allele frequency: 7.973789464726407e-3
allele num: 117510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2744A>C
  hgvsp: ENSP00000350756.3:p.Asn915Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2825A>C
  hgvsp: ENSP00000362867.3:p.Asn942Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2744A>C
  hgvsp: ENSP00000314006.3:p.Asn915Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1234A>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2744A>C
  hgvsp: ENSP00000362865.2:p.Asn915Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2825A>C
  hgvsp: ENSP00000273063.6:p.Asn942Thr
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1212A>C
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 25243
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 3.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 4.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 9.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 32450
  bin: 6.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.75e1
  variant carriers: 46
hgvs: p.Asn942Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-220502515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502515
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2829C>T
  hgvsp: ENST00000373762.3:c.2829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2748C>T
  hgvsp: ENST00000358055.3:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1216C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1238C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2829C>T
  hgvsp: ENST00000273063.6:c.2829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2748C>T
  hgvsp: ENST00000373760.2:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2748C>T
  hgvsp: ENST00000317151.3:c.2748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34021
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser943Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-220502516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502516
    reference: chr 2
allele count: 21
allele frequency: 1.734591049510185e-4
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2830C>T
  hgvsp: ENSP00000273063.6:p.Arg944Cys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2749C>T
  hgvsp: ENSP00000362865.2:p.Arg917Cys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2749C>T
  hgvsp: ENSP00000314006.3:p.Arg917Cys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2749C>T
  hgvsp: ENSP00000350756.3:p.Arg917Cys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1217C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2830C>T
  hgvsp: ENSP00000362867.3:p.Arg944Cys
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000403160
  ensembl transcript: ENST00000416910
  gene symbol: SLC4A3
  hgvsc: ENST00000416910.1:c.*1239C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14857
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg944Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-220502521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502521
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502521
    reference: chr 2
allele count: 3
allele frequency: 2.479092982514131e-5
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2835C>T
  hgvsp: ENST00000373762.3:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2754C>T
  hgvsp: ENST00000358055.3:c.2754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2835C>T
  hgvsp: ENST00000273063.6:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2754C>T
  hgvsp: ENST00000317151.3:c.2754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2754C>T
  hgvsp: ENST00000373760.2:c.2754C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1222C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 2
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: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33989
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe945Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-220502524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502524
    reference: chr 2
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2757G>A
  hgvsp: ENST00000358055.3:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2757G>A
  hgvsp: ENST00000373760.2:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2757G>A
  hgvsp: ENST00000317151.3:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2838G>A
  hgvsp: ENST00000373762.3:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2838G>A
  hgvsp: ENST00000273063.6:c.2838G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1225G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu946Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-220502524-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502524
    reference: chr 2
allele count: 15
allele frequency: 1.24073583906829e-4
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2757G>C
  hgvsp: ENST00000373760.2:c.2757G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1225G>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2838G>C
  hgvsp: ENST00000273063.6:c.2838G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2757G>C
  hgvsp: ENST00000358055.3:c.2757G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2757G>C
  hgvsp: ENST00000317151.3:c.2757G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2838G>C
  hgvsp: ENST00000373762.3:c.2838G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu946Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-220502537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502537
    reference: chr 2
allele count: 53
allele frequency: 4.400092983097001e-4
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+4C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+4C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+4C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+4C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+4C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+4C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25466
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2847+4C>T
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-220502538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502538
    reference: chr 2
allele count: 3
allele frequency: 2.492481015602931e-5
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+5G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+5G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+5G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+5G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+5G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+5G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2847+5G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-220502543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502543
    reference: chr 2
allele count: 2
allele frequency: 1.665029387768694e-5
allele num: 120118
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+10T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+10T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+10T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+10T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+10T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+10T>C
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4401
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-220502550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502550
    reference: chr 2
allele count: 1
allele frequency: 8.353241893178742e-6
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+17T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+17T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+17T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+17T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+17T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+17T>C
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

2-220502551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502551
    reference: chr 2
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+18G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+18G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+18G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+18G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+18G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+18G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS

2-220502551-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502551
    reference: chr 2
allele count: 3
allele frequency: 2.507019655034095e-5
allele num: 119664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+18G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+18G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+18G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+18G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+18G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+18G>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

2-220502553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502553
    reference: chr 2
allele count: 7
allele frequency: 5.85587846542522e-5
allele num: 119538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+20G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+20G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+20G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+20G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+20G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+20G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-220502554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502554
    reference: chr 2
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+21G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+21G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+21G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+21G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+21G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+21G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220502560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502560
    reference: chr 2
allele count: 1
allele frequency: 8.405480373203328e-6
allele num: 118970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+27C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+27C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+27C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+27C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+27C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+27C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-220502571-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502571
    reference: chr 2
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+38A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+38A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+38A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+38A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+38A>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+38A>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-220502574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502574
    reference: chr 2
allele count: 54
allele frequency: 4.569765080224765e-4
allele num: 118168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+41A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+41A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+41A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+41A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+41A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+41A>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14572
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-220502575-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502575
    reference: chr 2
allele count: 1
allele frequency: 8.464963516007247e-6
allele num: 118134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+42T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+42T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+42T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+42T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+42T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+42T>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-220502584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502584
    reference: chr 2
allele count: 27
allele frequency: 2.317516995124631e-4
allele num: 116504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+51T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+51T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+51T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+51T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+51T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+51T>C
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13829
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12544
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-220502585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502585
    reference: chr 2
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2766+52A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2847+52A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2847+52A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2766+52A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1234+52A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2766+52A>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-220502854-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502854
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502854
    reference: chr 2
allele count: 1
allele frequency: 1.811791136717759e-5
allele num: 55194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-32T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-32T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-32T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-32T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-32T>C
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-32T>C
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12636
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-220502857-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502857
    reference: chr 2
allele count: 1
allele frequency: 1.781959442603086e-5
allele num: 56118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-29G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-29G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-29G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-29G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-29G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-29G>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 27988
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 359
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genotype depth: GenotypeDepth
  all individuals: 30
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genotype depth: GenotypeDepth
  all individuals: 12192
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genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2281
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genotype quality: GenotypeQuality
  all individuals: 4527
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3630
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1891
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genotype quality: GenotypeQuality
  all individuals: 1456
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-220502862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502862
    reference: chr 2
allele count: 4
allele frequency: 6.775067750677507e-5
allele num: 59040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-24C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-24C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-24C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-24C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-24C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-24C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27850
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 360
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-220502866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502866
    reference: chr 2
allele count: 4
allele frequency: 6.505545977946199e-5
allele num: 61486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-20C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-20C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-20C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-20C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-20C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-20C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 7
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-220502874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502874
    reference: chr 2
allele count: 1
allele frequency: 1.453108198436456e-5
allele num: 68818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-12G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-12G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-12G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-12G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-12G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-12G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-220502874-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502874
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502874
    reference: chr 2
allele count: 2
allele frequency: 2.906216396872911e-5
allele num: 68818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-12G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-12G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-12G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-12G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-12G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-12G>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-220502876-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502876
    reference: chr 2
allele count: 1
allele frequency: 1.407776557704761e-5
allele num: 71034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-10C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-10C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-10C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-10C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-10C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-10C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18564
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

2-220502878-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502878
    reference: chr 2
allele count: 1
allele frequency: 1.377448414556875e-5
allele num: 72598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1235-8C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2767-8C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2767-8C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2848-8C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2767-8C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2848-8C>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2848-8C>G
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-220502887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502887
    reference: chr 2
allele count: 1
allele frequency: 1.241649904392957e-5
allele num: 80538
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2849C>T
  hgvsp: ENSP00000362867.3:p.Ala950Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1236C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2768C>T
  hgvsp: ENSP00000362865.2:p.Ala923Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2768C>T
  hgvsp: ENSP00000314006.3:p.Ala923Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2768C>T
  hgvsp: ENSP00000350756.3:p.Ala923Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2849C>T
  hgvsp: ENSP00000273063.6:p.Ala950Val
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala950Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/2-220502900-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502900
    reference: chr 2
allele count: 122
allele frequency: 1.352010284143801e-3
allele num: 90236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2781C>A
  hgvsp: ENST00000358055.3:c.2781C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2862C>A
  hgvsp: ENST00000273063.6:c.2862C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2781C>A
  hgvsp: ENST00000373760.2:c.2781C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1249C>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2862C>A
  hgvsp: ENST00000373762.3:c.2862C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2781C>A
  hgvsp: ENST00000317151.3:c.2781C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 26766
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile954Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

2-220502900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502900
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502900
    reference: chr 2
allele count: 4
allele frequency: 4.432820603750166e-5
allele num: 90236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1249C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2862C>T
  hgvsp: ENST00000373762.3:c.2862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2862C>T
  hgvsp: ENST00000273063.6:c.2862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2781C>T
  hgvsp: ENST00000317151.3:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2781C>T
  hgvsp: ENST00000373760.2:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2781C>T
  hgvsp: ENST00000358055.3:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile954Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-220502901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502901
    reference: chr 2
allele count: 3
allele frequency: 3.303746448472568e-5
allele num: 90806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2782G>A
  hgvsp: ENSP00000362865.2:p.Gly928Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2782G>A
  hgvsp: ENSP00000314006.3:p.Gly928Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2863G>A
  hgvsp: ENSP00000273063.6:p.Gly955Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2782G>A
  hgvsp: ENSP00000350756.3:p.Gly928Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2863G>A
  hgvsp: ENSP00000362867.3:p.Gly955Arg
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1250G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly955Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-220502903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502903
    reference: chr 2
allele count: 8
allele frequency: 8.657821259280103e-5
allele num: 92402
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2865G>A
  hgvsp: ENST00000373762.3:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2784G>A
  hgvsp: ENST00000358055.3:c.2784G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2865G>A
  hgvsp: ENST00000273063.6:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2784G>A
  hgvsp: ENST00000373760.2:c.2784G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1252G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2784G>A
  hgvsp: ENST00000317151.3:c.2784G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly955Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-220502905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502905
    reference: chr 2
allele count: 1
allele frequency: 1.073929292495382e-5
allele num: 93116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2786A>G
  hgvsp: ENSP00000362865.2:p.Asp929Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2867A>G
  hgvsp: ENSP00000273063.6:p.Asp956Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2786A>G
  hgvsp: ENSP00000350756.3:p.Asp929Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2786A>G
  hgvsp: ENSP00000314006.3:p.Asp929Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2867A>G
  hgvsp: ENSP00000362867.3:p.Asp956Gly
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1254A>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp956Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-220502921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502921
    reference: chr 2
allele count: 6
allele frequency: 6.141877367181902e-5
allele num: 97690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1270C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2883C>T
  hgvsp: ENST00000273063.6:c.2883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2802C>T
  hgvsp: ENST00000373760.2:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2802C>T
  hgvsp: ENST00000358055.3:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2802C>T
  hgvsp: ENST00000317151.3:c.2802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2883C>T
  hgvsp: ENST00000373762.3:c.2883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ile961Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-220502928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502928
    reference: chr 2
allele count: 1
allele frequency: 1.015971065144065e-5
allele num: 98428
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2890C>T
  hgvsp: ENST00000373762.3:c.2890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2890C>T
  hgvsp: ENST00000273063.6:c.2890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2809C>T
  hgvsp: ENST00000317151.3:c.2809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2809C>T
  hgvsp: ENST00000358055.3:c.2809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1277C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2809C>T
  hgvsp: ENST00000373760.2:c.2809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu964Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-220502939-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502939
    reference: chr 2
allele count: 2
allele frequency: 2.041858090862685e-5
allele num: 97950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1288C>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2901C>G
  hgvsp: ENST00000373762.3:c.2901C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2820C>G
  hgvsp: ENST00000373760.2:c.2820C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2820C>G
  hgvsp: ENST00000358055.3:c.2820C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2820C>G
  hgvsp: ENST00000317151.3:c.2820C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2901C>G
  hgvsp: ENST00000273063.6:c.2901C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val967Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-220502954-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502954
    reference: chr 2
allele count: 1
allele frequency: 1.048218029350105e-5
allele num: 95400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1303C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2916C>T
  hgvsp: ENST00000273063.6:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2916C>T
  hgvsp: ENST00000373762.3:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2835C>T
  hgvsp: ENST00000358055.3:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2835C>T
  hgvsp: ENST00000373760.2:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2835C>T
  hgvsp: ENST00000317151.3:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser972Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-220502955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502955
    reference: chr 2
allele count: 1
allele frequency: 1.046243984097091e-5
allele num: 95580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2836A>G
  hgvsp: ENSP00000314006.3:p.Ile946Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2917A>G
  hgvsp: ENSP00000362867.3:p.Ile973Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2836A>G
  hgvsp: ENSP00000362865.2:p.Ile946Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2917A>G
  hgvsp: ENSP00000273063.6:p.Ile973Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2836A>G
  hgvsp: ENSP00000350756.3:p.Ile946Val
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1304A>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile973Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-220502966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502966
    reference: chr 2
allele count: 1
allele frequency: 1.093326336044783e-5
allele num: 91464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2847C>T
  hgvsp: ENST00000373760.2:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2928C>T
  hgvsp: ENST00000273063.6:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1315C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2928C>T
  hgvsp: ENST00000373762.3:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2847C>T
  hgvsp: ENST00000358055.3:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2847C>T
  hgvsp: ENST00000317151.3:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr976Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-220502971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502971
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502971
    reference: chr 2
allele count: 8
allele frequency: 8.947545017335868e-5
allele num: 89410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2933C>T
  hgvsp: ENSP00000273063.6:p.Thr978Met
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2852C>T
  hgvsp: ENSP00000314006.3:p.Thr951Met
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2852C>T
  hgvsp: ENSP00000362865.2:p.Thr951Met
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1320C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2933C>T
  hgvsp: ENSP00000362867.3:p.Thr978Met
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2852C>T
  hgvsp: ENSP00000350756.3:p.Thr951Met
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14754
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr978Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

2-220502972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502972
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502972
    reference: chr 2
allele count: 2
allele frequency: 2.25728538859168e-5
allele num: 88602
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2934G>A
  hgvsp: ENST00000373762.3:c.2934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1321G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2934G>A
  hgvsp: ENST00000273063.6:c.2934G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2853G>A
  hgvsp: ENST00000373760.2:c.2853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2853G>A
  hgvsp: ENST00000358055.3:c.2853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2853G>A
  hgvsp: ENST00000317151.3:c.2853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr978Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-220502990-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502990
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502990
    reference: chr 2
allele count: 1
allele frequency: 1.205283964902131e-5
allele num: 82968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2856+15G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2856+15G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2937+15G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2937+15G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1324+15G>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2856+15G>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6865
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

2-220502997-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220502997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220502997
    reference: chr 2
allele count: 1
allele frequency: 1.238942438734296e-5
allele num: 80714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2937+22G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2856+22G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1324+22G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2856+22G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2937+22G>A
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2856+22G>A
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

2-220503002-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220503002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220503002
    reference: chr 2
allele count: 1
allele frequency: 1.272620835348316e-5
allele num: 78578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2937+27T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2937+27T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2856+27T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1324+27T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2856+27T>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2856+27T>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-220503014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220503014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220503014
    reference: chr 2
allele count: 2
allele frequency: 2.811832189854909e-5
allele num: 71128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2856+39C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2937+39C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1324+39C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2856+39C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2856+39C>T
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2937+39C>T
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20444
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19681
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-220503379-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220503379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 220503379
    reference: chr 2
allele count: 1
allele frequency: 8.544087491455912e-6
allele num: 117040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000314006
  ensembl transcript: ENST00000317151
  gene symbol: SLC4A3
  hgvsc: ENST00000317151.3:c.2857-46A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362867
  ensembl transcript: ENST00000373762
  gene symbol: SLC4A3
  hgvsc: ENST00000373762.3:c.2938-46A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000362865
  ensembl transcript: ENST00000373760
  gene symbol: SLC4A3
  hgvsc: ENST00000373760.2:c.2857-46A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000273063
  ensembl transcript: ENST00000273063
  gene symbol: SLC4A3
  hgvsc: ENST00000273063.6:c.2938-46A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000396863
  ensembl transcript: ENST00000425141
  gene symbol: SLC4A3
  hgvsc: ENST00000425141.1:c.*1325-46A>G
  variant of: http://identifiers.org/hgnc/11029
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114923
  ensembl protein: ENSP00000350756
  ensembl transcript: ENST00000358055
  gene symbol: SLC4A3
  hgvsc: ENST00000358055.3:c.2857-46A>G
  variant of: http://identifiers.org/hgnc/11029
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

2-220503389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 220503389
    reference: chr 2
allele count: 2
allele frequency: 1.703026277695465e-5
allele num: 117438
alternate allele: A
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 2.482e0

DP
type: SiteQuality
SIO_000300: 1.897855e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

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

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5852
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1445
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
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: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.897721e6

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 4.852e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5825
bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 5
allele frequency: 7.512922226229114e-5
allele num: 66552
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.897477e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

GenotypeQuality
all individuals: 1113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32210
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.897449e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

FS
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

GenotypeQuality
all individuals: 9407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3106
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 12
allele frequency: 1.038601350181755e-3
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 189
allele frequency: 1.822213652140378e-2
allele num: 10372
num of homozygotes: 3

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

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

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.060873745568175e-4
allele num: 66564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.902594e6

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.72e-2

FS
type: SiteQuality
SIO_000300: 1.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

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

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5719
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9450
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.820671037408407e-4
allele num: 10372
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.896276e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

GenotypeQuality
all individuals: 73
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 32383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.56263378455787e-4
allele num: 66338
num of homozygotes: 0

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

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

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 1.902284e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 9368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5548
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1077
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.902284e6

GenotypeQuality
all individuals: 3688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.839685420447671e-3
allele num: 6612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.451e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.759e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.895441e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5569
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 11
allele frequency: 1.059730250481696e-3
allele num: 10380
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.89197e6

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.574e0

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.238e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.891944e6

FS
type: SiteQuality
SIO_000300: 2.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 143

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.460207612456747e-4
allele num: 11560
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: 134
allele frequency: 1.290446841294299e-2
allele num: 10384
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.007386056566384e-5
allele num: 66612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.898052e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

QD
type: SiteQuality
SIO_000300: 1.356e1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

GenotypeQuality
all individuals: 5495
bin: 9.75e1
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
all individuals: 8
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.185e1

DP
type: SiteQuality
SIO_000300: 1.891562e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
SIO_000300: 2.026e0

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.892146e6

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.013e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.894e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 2.763e0

QD
type: SiteQuality
SIO_000300: 5.93e0

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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variant carriers: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.502325720973501e-5
allele num: 66646
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.893733e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000750187546887e-5
allele num: 66650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

FS
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.893455e6

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
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allele num: 8646
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.185e0

DP
type: SiteQuality
SIO_000300: 1.893509e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-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
all individuals: 3709
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.45e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 1.893421e6

MQ
type: SiteQuality
SIO_000300: 5.808e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.609e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.084e0

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
all individuals: 3707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5484
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
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: 906
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.799e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 3.17e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.893551e6

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.657175836860331e-4
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

QD
type: SiteQuality
SIO_000300: 1.06e1

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.894032e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

GenotypeQuality
all individuals: 5481
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2411
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3705
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1084
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.893722e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

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

GenotypeQuality
all individuals: 2414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 9.25e1
variant carriers: 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: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

DP
type: SiteQuality
SIO_000300: 1.893613e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 9.51e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1378
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.155e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.893446e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5479
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.214e0

FS
type: SiteQuality
SIO_000300: 2.899e0

QD
type: SiteQuality
SIO_000300: 1.38e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.892973e6

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5470
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33092
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

FS
type: SiteQuality
SIO_000300: 8.718999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

DP
type: SiteQuality
SIO_000300: 1.889146e6

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

VQSLOD
type: SiteQuality
SIO_000300: -1.173e-1

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 192
bin: 5.75e1
variant carriers: 45

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 42

GenotypeQuality
all individuals: 178
bin: 1.25e1
variant carriers: 34

GenotypeQuality
all individuals: 3488
bin: 7.75e1
variant carriers: 46

GenotypeQuality
all individuals: 1017
bin: 8.75e1
variant carriers: 32

GenotypeQuality
all individuals: 163
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variant carriers: 9

GenotypeQuality
all individuals: 2925
bin: 7.25e1
variant carriers: 47

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 34

GenotypeQuality
all individuals: 2227
bin: 8.25e1
variant carriers: 54

GenotypeQuality
all individuals: 4356
bin: 9.75e1
variant carriers: 301

Other
type: Population
allele count: 11
allele frequency: 1.282051282051282e-2
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 520
allele frequency: 8.068770753809391e-3
allele num: 64446
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.103786816269285e-3
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 186
allele frequency: 1.911220715166461e-2
allele num: 9732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 179
allele frequency: 3.000335232986926e-2
allele num: 5966
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.744287458573173e-3
allele num: 11466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.335e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.908972e6

VQSLOD
type: SiteQuality
SIO_000300: -1.189e2

FS
type: SiteQuality
SIO_000300: 1.5883e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.856e0

GenotypeQuality
all individuals: 9654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3740
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variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.844489e6

MQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

FS
type: SiteQuality
SIO_000300: 1.0565e1

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 1.674e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4498
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9644
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
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: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.705790391437677e-4
allele num: 66524
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.147e1

FS
type: SiteQuality
SIO_000300: 2.032e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.844155e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9628
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82370820668693e-4
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.293e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.840198e6

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1036
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GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.741e0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.837737e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 1036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 3048
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.256524260583801e-3
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.741e0

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.837737e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 1022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 9.75e1
variant carriers: 53

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 162
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variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.601456815816858e-4
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16262
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.096267665176953e-4
allele num: 66232
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.912621359223301e-4
allele num: 10300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

DP
type: SiteQuality
SIO_000300: 1.81108e6

GenotypeQuality
all individuals: 9194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 32182
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variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4408
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2948
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.533776635937736e-5
allele num: 66170
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 2.8e0

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.803459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3577
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 558
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GenotypeQuality
all individuals: 1298
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027825718351652e-5
allele num: 66054
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.781677e6

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.386e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2552
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 8626
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variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.707e0

DP
type: SiteQuality
SIO_000300: 1.744087e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeQuality
all individuals: 1002
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29375
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
all individuals: 983
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GenotypeQuality
all individuals: 1280
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519618271890101e-5
allele num: 65806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.635e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.596e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.739092e6

FS
type: SiteQuality
SIO_000300: 2.592e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 37
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GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.861735137147822e-4
allele num: 16114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 890
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.596e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 2.592e0

DP
type: SiteQuality
SIO_000300: 1.739092e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1275
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GenotypeQuality
all individuals: 468
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 3031
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.192883895131087e-4
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 8.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.867e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.719457e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
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: 1.523090045083465e-5
allele num: 65656
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: 11454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: -3.031e0

FS
type: SiteQuality
SIO_000300: 5.403e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.815e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.406e0

DP
type: SiteQuality
SIO_000300: 1.685625e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.657e0

GenotypeQuality
all individuals: 1054
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
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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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-5
allele num: 65440
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.641675e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 3.067e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535485059730369e-5
allele num: 65126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.811e1

FS
type: SiteQuality
SIO_000300: 2.618e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.379e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.568219e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
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GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 19
allele frequency: 2.260828177058543e-3
allele num: 8404
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.247392245620941e-3
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537941004583064e-5
allele num: 65022
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.790436005625879e-5
allele num: 11376
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.545797e6

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16987
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GenotypeQuality
all individuals: 4344
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.346e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.708e0

DP
type: SiteQuality
SIO_000300: 1.540103e6

QD
type: SiteQuality
SIO_000300: 4.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 5112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.138746145940391e-4
allele num: 15568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.185041827943563e-4
allele num: 64072
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.457122481725798e-4
allele num: 11218
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.499803e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2224
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2053
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variant carriers: 0

GenotypeQuality
all individuals: 279
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562109472631842e-5
allele num: 64016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.33e0

QD
type: SiteQuality
SIO_000300: 1.116e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.49954e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.485292067475255e-5
allele num: 28692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1974
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.413e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 7.99087e5

QD
type: SiteQuality
SIO_000300: 7.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 761
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.421610894409088e-5
allele num: 29226
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

DP
type: SiteQuality
SIO_000300: 8.14711e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

QD
type: SiteQuality
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GenotypeQuality
all individuals: 4236
bin: 2.75e1
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: 378
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GenotypeQuality
all individuals: 775
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GenotypeQuality
all individuals: 1272
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variant carriers: 4

GenotypeQuality
all individuals: 281
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.297016861219196e-4
allele num: 30840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.715e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 8.5185e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 2066
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.242004595417003e-4
allele num: 32206
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.273e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 8.82197e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 2.791e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.75649153757098e-5
allele num: 36278
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.61621e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.336e0

VQSLOD
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

FS
type: SiteQuality
SIO_000300: 1.373e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5014
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.512983075141959e-5
allele num: 36278
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.373e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.336e0

DP
type: SiteQuality
SIO_000300: 9.61621e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.303e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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: 6376
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 37550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2872
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.900418091980236e-4
allele num: 5262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.319e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 9.81467e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.601998334721066e-5
allele num: 38432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

DP
type: SiteQuality
SIO_000300: 9.96313e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.568e1

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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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.323312113749361e-5
allele num: 43042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.776e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.631e-1

QD
type: SiteQuality
SIO_000300: 6.97e0

DP
type: SiteQuality
SIO_000300: 1.070326e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 119

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.538325210456358e-4
allele num: 9028
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.927729772191673e-4
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.55885363357216e-4
allele num: 3908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 2.314056356487549e-3
allele num: 48832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.163614e6

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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South Asian
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allele count: 1
allele frequency: 7.630093087135663e-5
allele num: 13106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.107665042091272e-4
allele num: 9028
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.0956749672346e-5
allele num: 48832
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13160
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 6.101281269066504e-5
allele num: 49170
num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 8
allele frequency: 1.595277977187525e-4
allele num: 50148
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 758
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.975503753457132e-5
allele num: 50620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.198e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.186444e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.340347443112308e-4
allele num: 8174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.226858e6

FS
type: SiteQuality
SIO_000300: 8.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.906e0

GenotypeQuality
all individuals: 163
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.218917601170161e-4
allele num: 8204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.935e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.229638e6

GenotypeQuality
all individuals: 351
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.737758839799656e-5
allele num: 53508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.152e0

DP
type: SiteQuality
SIO_000300: 1.212305e6

FS
type: SiteQuality
SIO_000300: 1.421e0

QD
type: SiteQuality
SIO_000300: 4.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
all individuals: 602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26809
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.922559310954743e-5
allele num: 52014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.311e0

FS
type: SiteQuality
SIO_000300: 4.472e0

QD
type: SiteQuality
SIO_000300: 2.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.157819e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52114
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.258178158027177e-4
allele num: 7948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.157084e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 8.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
all individuals: 1222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
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variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 797
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variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.012396361587378e-5
allele num: 49692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.871e1

VQSLOD
type: SiteQuality
SIO_000300: -2.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

DP
type: SiteQuality
SIO_000300: 1.069419e6

GenotypeQuality
all individuals: 1327
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.443001443001443e-4
allele num: 48510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.53465943339361e-5
allele num: 13272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e-1

FS
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 1.030049e6

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

GenotypeQuality
all individuals: 2218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 930
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GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6854
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.544892108042855e-5
allele num: 13254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.081685332445148e-5
allele num: 48038
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.464e0

FS
type: SiteQuality
SIO_000300: 6.444e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

MQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.53e-1

QD
type: SiteQuality
SIO_000300: 1.002e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.019535e6

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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.238839385662473e-5
allele num: 44666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.689e1

VQSLOD
type: SiteQuality
SIO_000300: -9.498e-1

FS
type: SiteQuality
SIO_000300: 2.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 9.14386e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4860
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1274
bin: 9.75e1
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GenotypeQuality
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.307976366322009e-5
allele num: 43328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.208e0

QD
type: SiteQuality
SIO_000300: 1.148e1

DP
type: SiteQuality
SIO_000300: 8.81695e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5027
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.375974149401255e-5
allele num: 42088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 3.358e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 8.55826e5

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1268
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24156
bin: 2.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2918
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37758
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.804e0

FS
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 7.99085e5

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 9.683999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -4.266e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.497276e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1