2-74450001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450001
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450001
    reference: chr 2
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.3019A>G
  hgvsp: ENSP00000351513.4:p.Ile1007Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.3019A>G
  hgvsp: ENSP00000352461.4:p.Ile1007Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3082A>G
  hgvsp: ENSP00000366859.1:p.Ile1028Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.173A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3373A>G
  hgvsp: ENSP00000366861.4:p.Ile1125Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3977A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3373A>G
  hgvsp: ENSP00000350475.5:p.Ile1125Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3082A>G
  hgvsp: ENSP00000251768.6:p.Ile1028Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3325A>G
  hgvsp: ENSP00000377587.2:p.Ile1109Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3951A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1125Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-74450003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450003
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3371G>A
  hgvsp: ENSP00000366861.4:p.Cys1124Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.3017G>A
  hgvsp: ENSP00000351513.4:p.Cys1006Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3323G>A
  hgvsp: ENSP00000377587.2:p.Cys1108Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3080G>A
  hgvsp: ENSP00000251768.6:p.Cys1027Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3975G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3949G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.3017G>A
  hgvsp: ENSP00000352461.4:p.Cys1006Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3080G>A
  hgvsp: ENSP00000366859.1:p.Cys1027Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3371G>A
  hgvsp: ENSP00000350475.5:p.Cys1124Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*162G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.171G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1124Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

2-74450009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450009
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3943T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.3011T>C
  hgvsp: ENSP00000352461.4:p.Ile1004Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.3011T>C
  hgvsp: ENSP00000351513.4:p.Ile1004Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*156T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3969T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3317T>C
  hgvsp: ENSP00000377587.2:p.Ile1106Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3074T>C
  hgvsp: ENSP00000251768.6:p.Ile1025Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3074T>C
  hgvsp: ENSP00000366859.1:p.Ile1025Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3365T>C
  hgvsp: ENSP00000350475.5:p.Ile1122Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.165T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3365T>C
  hgvsp: ENSP00000366861.4:p.Ile1122Thr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1122Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-74450013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450013
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.3007G>A
  hgvsp: ENSP00000351513.4:p.Gly1003Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3361G>A
  hgvsp: ENSP00000350475.5:p.Gly1121Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.161G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3313G>A
  hgvsp: ENSP00000377587.2:p.Gly1105Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.3007G>A
  hgvsp: ENSP00000352461.4:p.Gly1003Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3070G>A
  hgvsp: ENSP00000366859.1:p.Gly1024Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3361G>A
  hgvsp: ENSP00000366861.4:p.Gly1121Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3965G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3070G>A
  hgvsp: ENSP00000251768.6:p.Gly1024Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3939G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1121Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-74450014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450014
    reference: chr 2
allele count: 63
allele frequency: 5.193049556530054e-4
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3069C>T
  hgvsp: ENST00000346834.4:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3938C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3069C>T
  hgvsp: ENST00000377632.1:c.3069C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3964C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.3006C>T
  hgvsp: ENST00000358683.4:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.160C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.3006C>T
  hgvsp: ENST00000359484.4:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3360C>T
  hgvsp: ENST00000357822.5:c.3360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3312C>T
  hgvsp: ENST00000394019.2:c.3312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3360C>T
  hgvsp: ENST00000377634.4:c.3360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14505
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Asn1120Asn
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: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-74450022-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450022
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3352C>G
  hgvsp: ENSP00000350475.5:p.Pro1118Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2998C>G
  hgvsp: ENSP00000351513.4:p.Pro1000Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2998C>G
  hgvsp: ENSP00000352461.4:p.Pro1000Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3352C>G
  hgvsp: ENSP00000366861.4:p.Pro1118Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3304C>G
  hgvsp: ENSP00000377587.2:p.Pro1102Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3061C>G
  hgvsp: ENSP00000251768.6:p.Pro1021Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3956C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*143C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3061C>G
  hgvsp: ENSP00000366859.1:p.Pro1021Ala
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.152C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3930C>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1118Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-74450023-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450023
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2997T>A
  hgvsp: ENSP00000352461.4:p.Asp999Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3955T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3060T>A
  hgvsp: ENSP00000251768.6:p.Asp1020Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3351T>A
  hgvsp: ENSP00000350475.5:p.Asp1117Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*142T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3303T>A
  hgvsp: ENSP00000377587.2:p.Asp1101Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2997T>A
  hgvsp: ENSP00000351513.4:p.Asp999Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3060T>A
  hgvsp: ENSP00000366859.1:p.Asp1020Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.151T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3351T>A
  hgvsp: ENSP00000366861.4:p.Asp1117Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3929T>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1117Glu
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: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-74450025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450025
    reference: chr 2
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3349G>C
  hgvsp: ENSP00000350475.5:p.Asp1117His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3927G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2995G>C
  hgvsp: ENSP00000352461.4:p.Asp999His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.149G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3301G>C
  hgvsp: ENSP00000377587.2:p.Asp1101His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3349G>C
  hgvsp: ENSP00000366861.4:p.Asp1117His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3058G>C
  hgvsp: ENSP00000251768.6:p.Asp1020His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3058G>C
  hgvsp: ENSP00000366859.1:p.Asp1020His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*140G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2995G>C
  hgvsp: ENSP00000351513.4:p.Asp999His
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3953G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1117His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-74450029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450029
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3345A>G
  hgvsp: ENST00000357822.5:c.3345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3297A>G
  hgvsp: ENST00000394019.2:c.3297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3054A>G
  hgvsp: ENST00000346834.4:c.3054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3054A>G
  hgvsp: ENST00000377632.1:c.3054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2991A>G
  hgvsp: ENST00000358683.4:c.2991A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3345A>G
  hgvsp: ENST00000377634.4:c.3345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3949A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.145A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2991A>G
  hgvsp: ENST00000359484.4:c.2991A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3923A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1115Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-74450037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450037
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450037
    reference: chr 2
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.137A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2983A>G
  hgvsp: ENSP00000352461.4:p.Ser995Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3337A>G
  hgvsp: ENSP00000350475.5:p.Ser1113Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3289A>G
  hgvsp: ENSP00000377587.2:p.Ser1097Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3337A>G
  hgvsp: ENSP00000366861.4:p.Ser1113Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3941A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2983A>G
  hgvsp: ENSP00000351513.4:p.Ser995Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3915A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3046A>G
  hgvsp: ENSP00000366859.1:p.Ser1016Gly
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3046A>G
  hgvsp: ENSP00000251768.6:p.Ser1016Gly
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1113Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-74450042-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450042
    reference: chr 2
allele count: 2
allele frequency: 1.651527663088357e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3041T>C
  hgvsp: ENSP00000366859.1:p.Met1014Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3936T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3332T>C
  hgvsp: ENSP00000350475.5:p.Met1111Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3284T>C
  hgvsp: ENSP00000377587.2:p.Met1095Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3910T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3041T>C
  hgvsp: ENSP00000251768.6:p.Met1014Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3332T>C
  hgvsp: ENSP00000366861.4:p.Met1111Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2978T>C
  hgvsp: ENSP00000352461.4:p.Met993Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*123T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.132T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2978T>C
  hgvsp: ENSP00000351513.4:p.Met993Thr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1111Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

2-74450043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450043
    reference: chr 2
allele count: 4
allele frequency: 3.303873792021145e-5
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3040A>G
  hgvsp: ENSP00000366859.1:p.Met1014Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2977A>G
  hgvsp: ENSP00000352461.4:p.Met993Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3935A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*122A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3040A>G
  hgvsp: ENSP00000251768.6:p.Met1014Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3331A>G
  hgvsp: ENSP00000366861.4:p.Met1111Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3283A>G
  hgvsp: ENSP00000377587.2:p.Met1095Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2977A>G
  hgvsp: ENSP00000351513.4:p.Met993Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3331A>G
  hgvsp: ENSP00000350475.5:p.Met1111Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3909A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.131A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1111Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-74450058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450058
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450058
    reference: chr 2
allele count: 2900
allele frequency: 2.401616536372068e-2
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3268G>A
  hgvsp: ENSP00000377587.2:p.Val1090Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3316G>A
  hgvsp: ENSP00000350475.5:p.Val1106Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3894G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3920G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*107G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3025G>A
  hgvsp: ENSP00000366859.1:p.Val1009Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.116G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2962G>A
  hgvsp: ENSP00000352461.4:p.Val988Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2962G>A
  hgvsp: ENSP00000351513.4:p.Val988Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3025G>A
  hgvsp: ENSP00000251768.6:p.Val1009Ile
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3316G>A
  hgvsp: ENSP00000366861.4:p.Val1106Ile
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 14029
  bin: 3.25e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8954
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 24921
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 6.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
hgvs: p.Val1106Ile
num of homozygotes: 51
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

2-74450059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450059
    reference: chr 2
allele count: 25
allele frequency: 2.071491308022472e-4
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2961G>A
  hgvsp: ENST00000358683.4:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3024G>A
  hgvsp: ENST00000346834.4:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2961G>A
  hgvsp: ENST00000359484.4:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.115G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3315G>A
  hgvsp: ENST00000357822.5:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3024G>A
  hgvsp: ENST00000377632.1:c.3024G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3893G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3315G>A
  hgvsp: ENST00000377634.4:c.3315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*106G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3919G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3267G>A
  hgvsp: ENST00000394019.2:c.3267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26111
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1105Ser
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: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-74450060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450060
    reference: chr 2
allele count: 12
allele frequency: 9.95239438021464e-5
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3023C>T
  hgvsp: ENSP00000251768.6:p.Ser1008Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3314C>T
  hgvsp: ENSP00000350475.5:p.Ser1105Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3023C>T
  hgvsp: ENSP00000366859.1:p.Ser1008Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.114C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3314C>T
  hgvsp: ENSP00000366861.4:p.Ser1105Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3918C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3892C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3266C>T
  hgvsp: ENSP00000377587.2:p.Ser1089Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2960C>T
  hgvsp: ENSP00000351513.4:p.Ser987Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2960C>T
  hgvsp: ENSP00000352461.4:p.Ser987Leu
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser1105Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-74450060-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450060
    reference: chr 2
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3314C>A
  hgvsp: ENSP00000350475.5:p.Ser1105Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*105C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2960C>A
  hgvsp: ENSP00000351513.4:p.Ser987Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3023C>A
  hgvsp: ENSP00000366859.1:p.Ser1008Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3023C>A
  hgvsp: ENSP00000251768.6:p.Ser1008Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3892C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.114C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2960C>A
  hgvsp: ENSP00000352461.4:p.Ser987Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3266C>A
  hgvsp: ENSP00000377587.2:p.Ser1089Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3314C>A
  hgvsp: ENSP00000366861.4:p.Ser1105Ter
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3918C>A
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25985
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1105Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-74450064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450064
    reference: chr 2
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3310C>T
  hgvsp: ENSP00000350475.5:p.Pro1104Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3914C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3888C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2956C>T
  hgvsp: ENSP00000352461.4:p.Pro986Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3019C>T
  hgvsp: ENSP00000251768.6:p.Pro1007Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3310C>T
  hgvsp: ENSP00000366861.4:p.Pro1104Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*101C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3262C>T
  hgvsp: ENSP00000377587.2:p.Pro1088Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3019C>T
  hgvsp: ENSP00000366859.1:p.Pro1007Ser
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.110C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2956C>T
  hgvsp: ENSP00000351513.4:p.Pro986Ser
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1104Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-74450064-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450064
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450064
    reference: chr 2
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3262C>A
  hgvsp: ENSP00000377587.2:p.Pro1088Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2956C>A
  hgvsp: ENSP00000352461.4:p.Pro986Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3310C>A
  hgvsp: ENSP00000350475.5:p.Pro1104Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2956C>A
  hgvsp: ENSP00000351513.4:p.Pro986Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3310C>A
  hgvsp: ENSP00000366861.4:p.Pro1104Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3019C>A
  hgvsp: ENSP00000366859.1:p.Pro1007Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3888C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.110C>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3019C>A
  hgvsp: ENSP00000251768.6:p.Pro1007Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3914C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*101C>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1104Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

2-74450069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450069
    reference: chr 2
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2951C>T
  hgvsp: ENSP00000351513.4:p.Pro984Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.105C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3909C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2951C>T
  hgvsp: ENSP00000352461.4:p.Pro984Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3883C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3305C>T
  hgvsp: ENSP00000366861.4:p.Pro1102Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3305C>T
  hgvsp: ENSP00000350475.5:p.Pro1102Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3014C>T
  hgvsp: ENSP00000251768.6:p.Pro1005Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3257C>T
  hgvsp: ENSP00000377587.2:p.Pro1086Leu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3014C>T
  hgvsp: ENSP00000366859.1:p.Pro1005Leu
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1102Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

2-74450074-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450074
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450072
    reference: chr 2
allele count: 1
allele frequency: 8.344180768332166e-6
allele num: 119844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3250_3251delCA
  hgvsp: ENSP00000377587.2:p.Gln1084ValfsTer78
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*89_*90delCA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3876_3877delCA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3298_3299delCA
  hgvsp: ENSP00000366861.4:p.Gln1100ValfsTer?
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3007_3008delCA
  hgvsp: ENSP00000251768.6:p.Gln1003ValfsTer78
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.98_99delCA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3298_3299delCA
  hgvsp: ENSP00000350475.5:p.Gln1100ValfsTer?
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3902_*3903delCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3007_3008delCA
  hgvsp: ENSP00000366859.1:p.Gln1003ValfsTer?
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2944_2945delCA
  hgvsp: ENSP00000351513.4:p.Gln982ValfsTer?
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2944_2945delCA
  hgvsp: ENSP00000352461.4:p.Gln982ValfsTer78
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1100ValfsTer?
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CTG
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

2-74450076-GGGGCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450071
    reference: chr 2
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-2_3297delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-2_3006delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-2_3875delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-2_97delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-2_2943delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-2_3297delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-2_2943delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-2_3249delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-2_*88delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-2_3006delAGCCC
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-2_*3901delAGCCC
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3295-2_3297delAGCCC
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: GGGGCT
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-74450086-AAAAACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450079
    reference: chr 2
allele count: 1
allele frequency: 8.433694295449179e-6
allele num: 118572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-14_2941-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-14_2941-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-14_3295-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-14_3004-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-14_*3899-8delCTGTTTT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-14_3004-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-14_3873-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-14_3247-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-14_*86-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-14_95-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-14_3295-8delCTGTTTT
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3295-14_3295-8delCTGTTTT
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: AAAAACAG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS

2-74450089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450089
    reference: chr 2
allele count: 6
allele frequency: 5.080526342529086e-5
allele num: 118098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-10T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-10T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-10T>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-74450091-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450089
    reference: chr 2
allele count: 1
allele frequency: 8.483779014524229e-6
allele num: 117872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-14_3004-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-14_95-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-14_2941-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-14_3873-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-14_*3899-13delCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-14_2941-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-14_3295-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-14_3295-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-14_3004-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-14_3247-13delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-14_*86-13delCT
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: CAG
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-74450095-GGGAAAAGAGGATAAACACCAACACAACAATTTGGCTTTCTTTTTTTTTTTTTTTGAGACA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450035
    reference: chr 2
allele count: 1
allele frequency: 8.528930131004366e-6
allele num: 117248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GGGAAAAGAGGATAAACACCAACACAACAATTTGGCTTTCTTTTTTTTTTTTTTTGAGACA
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-74450097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450097
    reference: chr 2
allele count: 1
allele frequency: 8.541022531217438e-6
allele num: 117082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-18C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-18C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-74450097-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450097
    reference: chr 2
allele count: 26
allele frequency: 2.220665858116534e-4
allele num: 117082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-18C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-18C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-18C>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19130
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-74450100-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450098
    reference: chr 2
allele count: 1
allele frequency: 8.56898029134533e-6
allele num: 116700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-23_3873-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-23_3295-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-23_*86-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-23_2941-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-23_*3899-22delCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-23_95-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-23_3004-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-23_3247-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-23_3295-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-23_3004-22delCT
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-23_2941-22delCT
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: AAG
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-74450102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450102
    reference: chr 2
allele count: 4
allele frequency: 3.444949703734326e-5
allele num: 116112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-23C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-23C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-74450104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450104
    reference: chr 2
allele count: 13
allele frequency: 1.122140699179974e-4
allele num: 115850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-25C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-25C>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-25C>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15295
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-74450106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450106
    reference: chr 2
allele count: 4
allele frequency: 3.465844106332097e-5
allele num: 115412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-27T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-27T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-74450110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450110
    reference: chr 2
allele count: 4
allele frequency: 3.505881115571371e-5
allele num: 114094
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-31T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-31T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-31T>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14618
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

2-74450120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450120
    reference: chr 2
allele count: 5
allele frequency: 4.785971360747378e-5
allele num: 104472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-41T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-41T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-41T>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18174
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6239
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-74450125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450125
    reference: chr 2
allele count: 25083
allele frequency: 2.698896038219028e-1
allele num: 92938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-46A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-46A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-46A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.75e1
  variant carriers: 1822
genotype depth: GenotypeDepth
  all individuals: 8976
  bin: 2.25e1
  variant carriers: 3869
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 1.25e1
  variant carriers: 5662
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 7.5e0
  variant carriers: 1945
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 374
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 1.75e1
  variant carriers: 6083
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 855
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 695
num of homozygotes: 4935
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-74450126-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450126
    reference: chr 2
allele count: 1
allele frequency: 1.163683757302116e-5
allele num: 85934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-47A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-47A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-74450129-GCTTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450125
    reference: chr 2
allele count: 3
allele frequency: 3.673949250514353e-5
allele num: 81656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-54_*3899-51delAAAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-54_2941-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-54_3295-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-54_95-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-54_3247-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-54_*86-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-54_3873-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-54_3004-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-54_3004-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-54_3295-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-54_2941-51delAAAG
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: GCTTT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-74450130-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450131
    reference: chr 2
allele count: 39
allele frequency: 5.535683869868846e-4
allele num: 70452
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-52dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-52dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-52dupA
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

2-74450130-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74450130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74450132
    reference: chr 2
allele count: 3
allele frequency: 4.258218361437575e-5
allele num: 70452
alternate allele: CTT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3899-53_*3899-52dupAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3295-53_3295-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3873-53_3873-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2941-53_2941-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3295-53_3295-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-53_95-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3247-53_3247-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2941-53_2941-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*86-53_*86-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3004-53_3004-52dupAA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3004-53_3004-52dupAA
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-74451925-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451925
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451925
    reference: chr 2
allele count: 1
allele frequency: 8.405621679779436e-6
allele num: 118968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+42A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+42A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1846A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-74451935-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451935
    reference: chr 2
allele count: 1
allele frequency: 8.379139294811638e-6
allele num: 119344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1856A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+32A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+32A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+32A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-74451936-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451936
    reference: chr 2
allele count: 1
allele frequency: 8.37408722449253e-6
allele num: 119416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+31G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+31G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1857G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+31G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

2-74451940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451940
    reference: chr 2
allele count: 2
allele frequency: 1.670480931460167e-5
allele num: 119726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+27A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+27A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1861A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-74451944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451944
    reference: chr 2
allele count: 1
allele frequency: 8.337363058811759e-6
allele num: 119942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+23G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+23G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1865G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

2-74451947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451947
    reference: chr 2
allele count: 75
allele frequency: 6.240223649615602e-4
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1868G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+20G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+20G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+20G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

2-74451949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451949
    reference: chr 2
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+18C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1870C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+18C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+18C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-74451955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451955
    reference: chr 2
allele count: 6
allele frequency: 4.966805185344614e-5
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+12G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+12G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1876G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-74451957-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451957
    reference: chr 2
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1878A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+10A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+10A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+10A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-74451958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451958
    reference: chr 2
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+9G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1879G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+9G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+9G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-74451962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451962
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451962
    reference: chr 2
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3294+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3003+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*85+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2940+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3898+5G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3294+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3872+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2940+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3246+5G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1883G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3003+5G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*3898+5G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

2-74451965-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451962
    reference: chr 2
allele count: 4
allele frequency: 3.303000776205183e-5
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1889_95-1887delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*84_*85+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3871_3872+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3002_3003+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2939_2940+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2939_2940+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3293_3294+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3897_*3898+1delAGG
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3245_3246+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3293_3294+1delAGG
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3002_3003+1delAGG
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*3897_*3898+1delAGG
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: ACCT
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-74451968-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451968
    reference: chr 2
allele count: 3
allele frequency: 2.476023835856127e-5
allele num: 121162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.3002A>T
  hgvsp: ENSP00000366859.1:p.Glu1001Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2939A>T
  hgvsp: ENSP00000351513.4:p.Glu980Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3245A>T
  hgvsp: ENSP00000377587.2:p.Glu1082Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3897A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3293A>T
  hgvsp: ENSP00000350475.5:p.Glu1098Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3293A>T
  hgvsp: ENSP00000366861.4:p.Glu1098Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.3002A>T
  hgvsp: ENSP00000251768.6:p.Glu1001Val
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1889A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*84A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3871A>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2939A>T
  hgvsp: ENSP00000352461.4:p.Glu980Val
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1098Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-74451973-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451973
    reference: chr 2
allele count: 27
allele frequency: 2.227428722280887e-4
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3288T>C
  hgvsp: ENST00000357822.5:c.3288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2997T>C
  hgvsp: ENST00000346834.4:c.2997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2997T>C
  hgvsp: ENST00000377632.1:c.2997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3866T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3288T>C
  hgvsp: ENST00000377634.4:c.3288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3240T>C
  hgvsp: ENST00000394019.2:c.3240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2934T>C
  hgvsp: ENST00000359484.4:c.2934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*79T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2934T>C
  hgvsp: ENST00000358683.4:c.2934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3892T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1894T>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1096Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

2-74451973-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451973
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451973
    reference: chr 2
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1894T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*79T>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3288T>A
  hgvsp: ENSP00000350475.5:p.Asp1096Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3288T>A
  hgvsp: ENSP00000366861.4:p.Asp1096Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2997T>A
  hgvsp: ENSP00000251768.6:p.Asp999Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2934T>A
  hgvsp: ENSP00000352461.4:p.Asp978Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3892T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2934T>A
  hgvsp: ENSP00000351513.4:p.Asp978Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3240T>A
  hgvsp: ENSP00000377587.2:p.Asp1080Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2997T>A
  hgvsp: ENSP00000366859.1:p.Asp999Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3866T>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1096Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-74451976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451976
    reference: chr 2
allele count: 2
allele frequency: 1.649511744523621e-5
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3285T>C
  hgvsp: ENST00000377634.4:c.3285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*76T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3863T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2994T>C
  hgvsp: ENST00000377632.1:c.2994T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1897T>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2931T>C
  hgvsp: ENST00000359484.4:c.2931T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2994T>C
  hgvsp: ENST00000346834.4:c.2994T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3285T>C
  hgvsp: ENST00000357822.5:c.3285T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3237T>C
  hgvsp: ENST00000394019.2:c.3237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2931T>C
  hgvsp: ENST00000358683.4:c.2931T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3889T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1095Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-74451977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451977
    reference: chr 2
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2993G>A
  hgvsp: ENSP00000251768.6:p.Cys998Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2993G>A
  hgvsp: ENSP00000366859.1:p.Cys998Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3888G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3236G>A
  hgvsp: ENSP00000377587.2:p.Cys1079Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2930G>A
  hgvsp: ENSP00000351513.4:p.Cys977Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1898G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*75G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3284G>A
  hgvsp: ENSP00000350475.5:p.Cys1095Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2930G>A
  hgvsp: ENSP00000352461.4:p.Cys977Tyr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3862G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3284G>A
  hgvsp: ENSP00000366861.4:p.Cys1095Tyr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys1095Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-74451984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451984
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451984
    reference: chr 2
allele count: 62
allele frequency: 5.10960936212296e-4
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3881G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2986G>A
  hgvsp: ENSP00000251768.6:p.Glu996Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2986G>A
  hgvsp: ENSP00000366859.1:p.Glu996Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2923G>A
  hgvsp: ENSP00000351513.4:p.Glu975Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3855G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3277G>A
  hgvsp: ENSP00000350475.5:p.Glu1093Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3277G>A
  hgvsp: ENSP00000366861.4:p.Glu1093Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3229G>A
  hgvsp: ENSP00000377587.2:p.Glu1077Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2923G>A
  hgvsp: ENSP00000352461.4:p.Glu975Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1905G>A
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1093Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-74451985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451985
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451985
    reference: chr 2
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3276C>T
  hgvsp: ENST00000377634.4:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2985C>T
  hgvsp: ENST00000377632.1:c.2985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2922C>T
  hgvsp: ENST00000359484.4:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1906C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2922C>T
  hgvsp: ENST00000358683.4:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3880C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3276C>T
  hgvsp: ENST00000357822.5:c.3276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2985C>T
  hgvsp: ENST00000346834.4:c.2985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3228C>T
  hgvsp: ENST00000394019.2:c.3228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3854C>T
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1092His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

2-74451990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451990
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451990
    reference: chr 2
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3271G>A
  hgvsp: ENSP00000350475.5:p.Ala1091Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1911G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2917G>A
  hgvsp: ENSP00000352461.4:p.Ala973Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3223G>A
  hgvsp: ENSP00000377587.2:p.Ala1075Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2980G>A
  hgvsp: ENSP00000366859.1:p.Ala994Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2917G>A
  hgvsp: ENSP00000351513.4:p.Ala973Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2980G>A
  hgvsp: ENSP00000251768.6:p.Ala994Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3875G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3849G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3271G>A
  hgvsp: ENSP00000366861.4:p.Ala1091Thr
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1091Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-74451994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74451994
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74451994
    reference: chr 2
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1915A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3219A>G
  hgvsp: ENST00000394019.2:c.3219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2913A>G
  hgvsp: ENST00000359484.4:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3267A>G
  hgvsp: ENST00000357822.5:c.3267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*58A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3845A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2976A>G
  hgvsp: ENST00000346834.4:c.2976A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2913A>G
  hgvsp: ENST00000358683.4:c.2913A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3871A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3267A>G
  hgvsp: ENST00000377634.4:c.3267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2976A>G
  hgvsp: ENST00000377632.1:c.2976A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1089Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-74452000-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452000
    reference: chr 2
allele count: 7
allele frequency: 5.766442599182813e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3865A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2907A>G
  hgvsp: ENST00000358683.4:c.2907A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2907A>G
  hgvsp: ENST00000359484.4:c.2907A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2970A>G
  hgvsp: ENST00000346834.4:c.2970A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*52A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3261A>G
  hgvsp: ENST00000357822.5:c.3261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3213A>G
  hgvsp: ENST00000394019.2:c.3213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2970A>G
  hgvsp: ENST00000377632.1:c.2970A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3261A>G
  hgvsp: ENST00000377634.4:c.3261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1921A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3839A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Arg1087Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-74452003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452003
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2967G>A
  hgvsp: ENST00000377632.1:c.2967G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3836G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3210G>A
  hgvsp: ENST00000394019.2:c.3210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1924G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2904G>A
  hgvsp: ENST00000359484.4:c.2904G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2904G>A
  hgvsp: ENST00000358683.4:c.2904G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3258G>A
  hgvsp: ENST00000357822.5:c.3258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3258G>A
  hgvsp: ENST00000377634.4:c.3258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3862G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2967G>A
  hgvsp: ENST00000346834.4:c.2967G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1086Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

2-74452005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452005
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3860A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3208A>G
  hgvsp: ENSP00000377587.2:p.Lys1070Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3256A>G
  hgvsp: ENSP00000350475.5:p.Lys1086Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*47A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2965A>G
  hgvsp: ENSP00000251768.6:p.Lys989Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2902A>G
  hgvsp: ENSP00000352461.4:p.Lys968Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2965A>G
  hgvsp: ENSP00000366859.1:p.Lys989Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3834A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2902A>G
  hgvsp: ENSP00000351513.4:p.Lys968Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3256A>G
  hgvsp: ENSP00000366861.4:p.Lys1086Glu
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1926A>G
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1086Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-74452005-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452005
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2902A>C
  hgvsp: ENSP00000352461.4:p.Lys968Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3208A>C
  hgvsp: ENSP00000377587.2:p.Lys1070Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*47A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3256A>C
  hgvsp: ENSP00000350475.5:p.Lys1086Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2965A>C
  hgvsp: ENSP00000251768.6:p.Lys989Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2965A>C
  hgvsp: ENSP00000366859.1:p.Lys989Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2902A>C
  hgvsp: ENSP00000351513.4:p.Lys968Gln
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3834A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1926A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3860A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3256A>C
  hgvsp: ENSP00000366861.4:p.Lys1086Gln
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys1086Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-74452007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452007
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452007
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2963G>A
  hgvsp: ENSP00000251768.6:p.Arg988Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3254G>A
  hgvsp: ENSP00000366861.4:p.Arg1085Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3206G>A
  hgvsp: ENSP00000377587.2:p.Arg1069Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2963G>A
  hgvsp: ENSP00000366859.1:p.Arg988Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3858G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3254G>A
  hgvsp: ENSP00000350475.5:p.Arg1085Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3832G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1928G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2900G>A
  hgvsp: ENSP00000352461.4:p.Arg967Lys
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2900G>A
  hgvsp: ENSP00000351513.4:p.Arg967Lys
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1085Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-74452009-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452009
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3830G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*43G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3856G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3252G>C
  hgvsp: ENSP00000366861.4:p.Lys1084Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2961G>C
  hgvsp: ENSP00000366859.1:p.Lys987Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3204G>C
  hgvsp: ENSP00000377587.2:p.Lys1068Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3252G>C
  hgvsp: ENSP00000350475.5:p.Lys1084Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2898G>C
  hgvsp: ENSP00000352461.4:p.Lys966Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2961G>C
  hgvsp: ENSP00000251768.6:p.Lys987Asn
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1930G>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2898G>C
  hgvsp: ENSP00000351513.4:p.Lys966Asn
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1084Asn
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: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-74452013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452013
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3248A>G
  hgvsp: ENSP00000350475.5:p.Lys1083Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2957A>G
  hgvsp: ENSP00000251768.6:p.Lys986Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2894A>G
  hgvsp: ENSP00000351513.4:p.Lys965Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3200A>G
  hgvsp: ENSP00000377587.2:p.Lys1067Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3248A>G
  hgvsp: ENSP00000366861.4:p.Lys1083Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1934A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3826A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2894A>G
  hgvsp: ENSP00000352461.4:p.Lys965Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*39A>G
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2957A>G
  hgvsp: ENSP00000366859.1:p.Lys986Arg
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3852A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1083Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-74452013-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452013
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2894A>C
  hgvsp: ENSP00000352461.4:p.Lys965Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2957A>C
  hgvsp: ENSP00000251768.6:p.Lys986Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3852A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3200A>C
  hgvsp: ENSP00000377587.2:p.Lys1067Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2894A>C
  hgvsp: ENSP00000351513.4:p.Lys965Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2957A>C
  hgvsp: ENSP00000366859.1:p.Lys986Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3248A>C
  hgvsp: ENSP00000366861.4:p.Lys1083Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3826A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3248A>C
  hgvsp: ENSP00000350475.5:p.Lys1083Thr
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*39A>C
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1934A>C
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1083Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-74452024-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74452024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 74452025
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000352461
  ensembl transcript: ENST00000359484
  gene symbol: SLC4A5
  hgvsc: ENST00000359484.4:c.2882dupA
  hgvsp: ENSP00000352461.4:p.Glu962GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264324
  ensembl protein: ENSP00000416453
  ensembl transcript: ENST00000451608
  gene symbol: RP11-287D1.3
  hgvsc: ENST00000451608.2:c.*3840dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000350475
  ensembl transcript: ENST00000357822
  gene symbol: SLC4A5
  hgvsc: ENST00000357822.5:c.3236dupA
  hgvsp: ENSP00000350475.5:p.Glu1080GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000483195
  gene symbol: SLC4A5
  hgvsc: ENST00000483195.1:n.3814dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000377587
  ensembl transcript: ENST00000394019
  gene symbol: SLC4A5
  hgvsc: ENST00000394019.2:c.3188dupA
  hgvsp: ENSP00000377587.2:p.Glu1064GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366861
  ensembl transcript: ENST00000377634
  gene symbol: SLC4A5
  hgvsc: ENST00000377634.4:c.3236dupA
  hgvsp: ENSP00000366861.4:p.Glu1080GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188687
  ensembl transcript: ENST00000480696
  gene symbol: SLC4A5
  hgvsc: ENST00000480696.1:n.95-1946dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000351513
  ensembl transcript: ENST00000358683
  gene symbol: SLC4A5
  hgvsc: ENST00000358683.4:c.2882dupA
  hgvsp: ENSP00000351513.4:p.Glu962GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000395804
  ensembl transcript: ENST00000423644
  gene symbol: SLC4A5
  hgvsc: ENST00000423644.1:c.*27dupA
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000251768
  ensembl transcript: ENST00000346834
  gene symbol: SLC4A5
  hgvsc: ENST00000346834.4:c.2945dupA
  hgvsp: ENSP00000251768.6:p.Glu983GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000188687
  ensembl protein: ENSP00000366859
  ensembl transcript: ENST00000377632
  gene symbol: SLC4A5
  hgvsc: ENST00000377632.1:c.2945dupA
  hgvsp: ENSP00000366859.1:p.Glu983GlyfsTer17
  variant of: http://identifiers.org/hgnc/18168
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1080GlyfsTer17
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9263
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3793
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41099
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.975362e6

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

FS
type: SiteQuality
SIO_000300: 1.768e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

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

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41069
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3791
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

FS
type: SiteQuality
SIO_000300: 4.185e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

QD
type: SiteQuality
SIO_000300: 1.061e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.975261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

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

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9265
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.99e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

DP
type: SiteQuality
SIO_000300: 1.975064e6

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
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ClippingRankSum
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SIO_000300: -8.38e-1

DP
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SIO_000300: 1.974675e6

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 63

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

South Asian
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allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 55
allele frequency: 8.246124321568863e-4
allele num: 66698
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
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SIO_000300: 1.976046e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 2.5e-3

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
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SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
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East Asian
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.827e0

FS
type: SiteQuality
SIO_000300: 1.2442e1

BaseQRankSum
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SIO_000300: 4.46e0

ClippingRankSum
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SIO_000300: 4.44e-1

MQRankSum
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SIO_000300: 3.36e-1

DP
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
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SIO_000300: -5.33e-1

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16434
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -4.03e-1

QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 16420
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele num: 66666
num of homozygotes: 0

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

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

African
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
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East Asian
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MQ
type: SiteQuality
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9161
bin: 6.75e1
variant carriers: 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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
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: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966502e6

VQSLOD
type: SiteQuality
SIO_000300: -6.428e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

FS
type: SiteQuality
SIO_000300: 1.164e0

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
all individuals: 3749
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2054
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40696
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 1.965814e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.115e1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 3.573e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 1

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

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

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40293
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 895
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4705
bin: 9.75e1
variant carriers: 2842

GenotypeQuality
all individuals: 1977
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8891
bin: 6.75e1
variant carriers: 1

Latino
type: Population
allele count: 200
allele frequency: 1.732201628269531e-2
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 60
allele frequency: 5.770340450086555e-3
allele num: 10398
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 2164
allele frequency: 3.253156945279615e-2
allele num: 66520
num of homozygotes: 41

South Asian
type: Population
allele count: 161
allele frequency: 9.983876968870148e-3
allele num: 16126
num of homozygotes: 2

Other
type: Population
allele count: 26
allele frequency: 2.882483370288248e-2
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 288
allele frequency: 4.357034795763994e-2
allele num: 6610
num of homozygotes: 7

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.993936e6

GenotypeQuality
all individuals: 755
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1948
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.211963839199846e-3
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.267e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

DP
type: SiteQuality
SIO_000300: 1.892548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.039681164442904e-3
allele num: 11542
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.887642e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

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

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41896
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
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: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 1.887642e6

VQSLOD
type: SiteQuality
SIO_000300: 6.879999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.744e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9235
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16006
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: 900
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.193e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 9.464e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 1.885733e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e0

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 42152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 9235
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 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: 8644
num of homozygotes: 0

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

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

South Asian
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: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.01e-1

ClippingRankSum
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DP
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SIO_000300: 1.885733e6

VQSLOD
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SIO_000300: -9.193e-1

FS
type: SiteQuality
SIO_000300: 9.464e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

East Asian
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allele frequency: 1.158748551564311e-4
allele num: 8630
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DP
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SIO_000300: 1.87586e6

QD
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ClippingRankSum
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MQ
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BaseQRankSum
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SIO_000300: 1.88e-1

ReadPosRankSum
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SIO_000300: -5.82e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 1.477e0

MQRankSum
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SIO_000300: 8.1e-2

VQSLOD
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SIO_000300: 2.77e-1

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

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.39467962655071e-5
allele num: 15638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.413e0

DP
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SIO_000300: 1.863244e6

InbreedingCoeff
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SIO_000300: 1.0e-4

ClippingRankSum
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SIO_000300: 8.799999999999999e-2

ReadPosRankSum
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SIO_000300: 5.29e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.871e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511624391571182e-5
allele num: 66154
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.644e1

DP
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SIO_000300: 1.855671e6

MQRankSum
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SIO_000300: -3.395e0

ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

FS
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ReadPosRankSum
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VQSLOD
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SIO_000300: -5.613e-1

QD
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523786304208698e-5
allele num: 65626
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.906e0

ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -9.0e-4

ClippingRankSum
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BaseQRankSum
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QD
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MQ
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
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Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.328021248339973e-4
allele num: 15060
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.587576841912102e-5
allele num: 65394
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65332
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

East Asian
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Other
type: Population
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Latino
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: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64980
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: 1
allele frequency: 6.821282401091406e-5
allele num: 14660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 1.678993e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.539550630963373e-4
allele num: 64980
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.945903872348706e-4
allele num: 10278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14660
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
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SIO_000300: 5.932e1

BaseQRankSum
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SIO_000300: 5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 5.464e0

DP
type: SiteQuality
SIO_000300: 1.678993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543448062972681e-5
allele num: 64790
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.639e1

ClippingRankSum
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SIO_000300: 2.69e0

MQRankSum
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SIO_000300: 1.3e0

VQSLOD
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SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

African
type: Population
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
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.647128074849743e-5
allele num: 64556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.7e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

FS
type: SiteQuality
SIO_000300: 2.092e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
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SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.829999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.610051e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.636e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1084
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.103469679101236e-5
allele num: 64444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.074008982620582e-3
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.741e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.493e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.954154727793696e-5
allele num: 11168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.668534080298786e-5
allele num: 64260
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.857e1

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.539549e6

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

Latino
type: Population
allele count: 3
allele frequency: 2.720841647016143e-4
allele num: 11026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
type: Population
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: 13614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570746418698165e-5
allele num: 63664
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
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QD
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.156e0

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

Other
type: Population
allele count: 1
allele frequency: 1.298701298701299e-3
allele num: 770
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 3.447087211306446e-4
allele num: 11604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.297569e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 282

GenotypeQuality
all individuals: 3976
bin: 2.75e1
variant carriers: 213

GenotypeQuality
all individuals: 1798
bin: 6.25e1
variant carriers: 507

GenotypeQuality
all individuals: 13366
bin: 2.25e1
variant carriers: 314

GenotypeQuality
all individuals: 2283
bin: 3.75e1
variant carriers: 645

GenotypeQuality
all individuals: 5220
bin: 7.5e0
variant carriers: 96

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 624

GenotypeQuality
all individuals: 2605
bin: 1.75e1
variant carriers: 204

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 414

GenotypeQuality
all individuals: 2416
bin: 1.25e1
variant carriers: 131

GenotypeQuality
all individuals: 4305
bin: 3.25e1
variant carriers: 495

GenotypeQuality
all individuals: 1402
bin: 2.5e0
variant carriers: 79

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 300

GenotypeQuality
all individuals: 537
bin: 5.75e1
variant carriers: 368

GenotypeQuality
all individuals: 16314
bin: 9.75e1
variant carriers: 15510

GenotypeQuality
all individuals: 901
bin: 4.25e1
variant carriers: 435

GenotypeQuality
all individuals: 393
bin: 8.75e1
variant carriers: 320

GenotypeQuality
all individuals: 552
bin: 8.25e1
variant carriers: 387

GenotypeQuality
all individuals: 984
bin: 6.75e1
variant carriers: 438

East Asian
type: Population
allele count: 3843
allele frequency: 5.296306504961411e-1
allele num: 7256
num of homozygotes: 974

Latino
type: Population
allele count: 5337
allele frequency: 5.744886975242196e-1
allele num: 9290
num of homozygotes: 1473

Other
type: Population
allele count: 128
allele frequency: 1.839080459770115e-1
allele num: 696
num of homozygotes: 8

South Asian
type: Population
allele count: 1954
allele frequency: 2.061616374762608e-1
allele num: 9478
num of homozygotes: 182

European (Non-Finnish)
type: Population
allele count: 7474
allele frequency: 1.459765625e-1
allele num: 51200
num of homozygotes: 475

African
type: Population
allele count: 5844
allele frequency: 6.214376860910251e-1
allele num: 9404
num of homozygotes: 1807

European (Finnish)
type: Population
allele count: 503
allele frequency: 8.959743498396865e-2
allele num: 5614
num of homozygotes: 16

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 2.073e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.639e-1

DP
type: SiteQuality
SIO_000300: 1.200202e6

GenotypeQuality
all individuals: 289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6023
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8374
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3778
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 559
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.146000458400183e-4
allele num: 8726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.140565e6

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8885
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4476
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5864
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 699
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3882
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1727
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2762
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.119901636564064e-5
allele num: 47172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.682368775235532e-4
allele num: 5944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

MQ
type: SiteQuality
SIO_000300: 5.8e1

DP
type: SiteQuality
SIO_000300: 1.128999e6

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 713
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16279
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9131
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 4978
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5170
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2564
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1343
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 5397
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5008
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 812
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1189
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.082641645615301e-3
allele num: 5542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.85480093676815e-4
allele num: 5124
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.157509157509158e-4
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 4.81069899456391e-4
allele num: 41574
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 6.09942055504727e-4
allele num: 6558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.121865e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 16279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5397
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4978
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9131
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 825
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.405349497281955e-5
allele num: 41574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.9032006245121e-4
allele num: 5124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.77e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.121865e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
all individuals: 8252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
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GenotypeQuality
all individuals: 1692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40042
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1823
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.76223965377333e-5
allele num: 14788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
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: 66100
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: 11560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.531e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.748737e6

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 1048
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
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GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
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GenotypeQuality
all individuals: 1705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15084
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: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: -4.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.760498e6

FS
type: SiteQuality
SIO_000300: 1.917e0

MQ
type: SiteQuality
SIO_000300: 5.492e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.714e0

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

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1029
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variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 457
bin: 2.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66178
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.9e-3

ClippingRankSum
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QD
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.762005e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.511264487563485e-5
allele num: 15358
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

Latino
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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: 8650
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: -7.0e-4

VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

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

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

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

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: 886
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

African
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 2.582e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.877e1

GenotypeQuality
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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: 75

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 72
allele frequency: 8.321775312066574e-3
allele num: 8652
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.357279084551812e-5
allele num: 15730
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507567991316408e-5
allele num: 66332
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.307e1

MQRankSum
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SIO_000300: 2.78e-1

ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-3

DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: 5.21e-1

ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.774718e6

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

South Asian
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allele frequency: 3.720699491504403e-4
allele num: 16126
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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SIO_000300: 5.97e1

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

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

Other
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European (Non-Finnish)
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8654
num of homozygotes: 0

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

African
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BaseQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.818e1

DP
type: SiteQuality
SIO_000300: 1.782313e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 1901
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1748
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8612
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
all individuals: 836
bin: 8.25e1
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GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
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: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -6.987e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.784278e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.208e0

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.224439818782907e-4
allele num: 16334
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 4.085e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
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SIO_000300: 1.254e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.785366e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 838
bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.209e1

MQ
type: SiteQuality
SIO_000300: 5.898e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.744e0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.089e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.786344e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 27

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43675
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GenotypeQuality
all individuals: 829
bin: 8.25e1
variant carriers: 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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele count: 26
allele frequency: 2.498558523928503e-3
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: 9.77e-1

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16434
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
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InbreedingCoeff
type: SiteQuality
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 8.547521218846535e-4
allele num: 66686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
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VQSLOD
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FS
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SIO_000300: 5.25e-1

QD
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SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

BaseQRankSum
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SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

DP
type: SiteQuality
SIO_000300: 1.789684e6

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

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

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

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

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

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

MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -3.75e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
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SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.779163e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.48e0

MQ
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SIO_000300: 5.924e1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
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QD
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SIO_000300: 1.059e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
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SIO_000300: 4.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.779326e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

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

East Asian
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
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Latino
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 4.72e0

InbreedingCoeff
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MQ
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SIO_000300: 5.89e1

QD
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SIO_000300: 1.344e1

VQSLOD
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SIO_000300: -4.799e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 1.777071e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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East Asian
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VQSLOD
type: SiteQuality
SIO_000300: -5.823e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
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African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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SIO_000300: 1.72e-1

QD
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ReadPosRankSum
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SIO_000300: 9.1e-1

ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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FS
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele num: 66732
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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