3-27433202-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433202
    reference: chr 3
allele count: 3
allele frequency: 5.89159465828751e-5
allele num: 50920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1809+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2847+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1235+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1235+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1235+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.106+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1812+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2814+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3147+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2787+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2802+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2802+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3159+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3135+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1235+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3186+29A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3147+29A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-27433207-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433207
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433207
    reference: chr 3
allele count: 1
allele frequency: 1.908834084141406e-5
allele num: 52388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2814+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1235+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1235+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2847+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1809+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.106+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3159+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3186+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2787+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3147+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1235+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3135+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3147+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1812+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2802+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1235+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2802+24T>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-27433219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433219
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433219
    reference: chr 3
allele count: 4
allele frequency: 6.699718611818304e-5
allele num: 59704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1235+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1235+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2787+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3159+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3147+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1235+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2802+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.106+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3135+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2814+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1809+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3186+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3147+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2802+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1812+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1235+12G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2847+12G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-27433234-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433234
    reference: chr 3
allele count: 2
allele frequency: 2.688244307642679e-5
allele num: 74398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2784C>A
  hgvsp: ENST00000428386.1:c.2784C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3144C>A
  hgvsp: ENST00000440156.1:c.3144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.103C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2799C>A
  hgvsp: ENST00000437179.1:c.2799C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2799C>A
  hgvsp: ENST00000455077.1:c.2799C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1232C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3156C>A
  hgvsp: ENST00000295736.5:c.3156C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1809C>A
  hgvsp: ENST00000419036.1:c.1809C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3144C>A
  hgvsp: ENST00000445684.1:c.3144C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3132C>A
  hgvsp: ENST00000446700.1:c.3132C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3183C>A
  hgvsp: ENST00000454389.1:c.3183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2811C>A
  hgvsp: ENST00000435667.2:c.2811C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1806C>A
  hgvsp: ENST00000388777.4:c.1806C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2844C>A
  hgvsp: ENST00000428179.1:c.2844C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1232C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1232C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1232C>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1052Ile
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-27433254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433254
    reference: chr 3
allele count: 2
allele frequency: 2.331274041263551e-5
allele num: 85790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2779G>A
  hgvsp: ENSP00000394252.1:p.Val927Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3136G>A
  hgvsp: ENSP00000295736.5:p.Val1046Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1212G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2764G>A
  hgvsp: ENSP00000416368.1:p.Val922Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1789G>A
  hgvsp: ENSP00000411031.1:p.Val597Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2779G>A
  hgvsp: ENSP00000407382.1:p.Val927Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1786G>A
  hgvsp: ENSP00000373429.4:p.Val596Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3112G>A
  hgvsp: ENSP00000406605.1:p.Val1038Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3163G>A
  hgvsp: ENSP00000390394.1:p.Val1055Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2824G>A
  hgvsp: ENSP00000388703.1:p.Val942Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1212G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3124G>A
  hgvsp: ENSP00000414797.1:p.Val1042Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3124G>A
  hgvsp: ENSP00000406804.1:p.Val1042Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.83G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1212G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2791G>A
  hgvsp: ENSP00000395336.2:p.Val931Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1212G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1046Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

3-27433275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433275
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433275
    reference: chr 3
allele count: 2
allele frequency: 2.242303293943539e-5
allele num: 89194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1191G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3115G>A
  hgvsp: ENSP00000295736.5:p.Gly1039Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3103G>A
  hgvsp: ENSP00000414797.1:p.Gly1035Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.62G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1765G>A
  hgvsp: ENSP00000373429.4:p.Gly589Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1191G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3103G>A
  hgvsp: ENSP00000406804.1:p.Gly1035Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3091G>A
  hgvsp: ENSP00000406605.1:p.Gly1031Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2758G>A
  hgvsp: ENSP00000407382.1:p.Gly920Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1191G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3142G>A
  hgvsp: ENSP00000390394.1:p.Gly1048Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2803G>A
  hgvsp: ENSP00000388703.1:p.Gly935Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1191G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2758G>A
  hgvsp: ENSP00000394252.1:p.Gly920Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2770G>A
  hgvsp: ENSP00000395336.2:p.Gly924Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1768G>A
  hgvsp: ENSP00000411031.1:p.Gly590Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2743G>A
  hgvsp: ENSP00000416368.1:p.Gly915Ser
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1039Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-27433279-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433279
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433279
    reference: chr 3
allele count: 1
allele frequency: 1.126785955739848e-5
allele num: 88748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2799G>C
  hgvsp: ENST00000428179.1:c.2799G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3138G>C
  hgvsp: ENST00000454389.1:c.3138G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3087G>C
  hgvsp: ENST00000446700.1:c.3087G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1761G>C
  hgvsp: ENST00000388777.4:c.1761G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2766G>C
  hgvsp: ENST00000435667.2:c.2766G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2739G>C
  hgvsp: ENST00000428386.1:c.2739G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1187G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1187G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1187G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3099G>C
  hgvsp: ENST00000445684.1:c.3099G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3111G>C
  hgvsp: ENST00000295736.5:c.3111G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3099G>C
  hgvsp: ENST00000440156.1:c.3099G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2754G>C
  hgvsp: ENST00000437179.1:c.2754G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2754G>C
  hgvsp: ENST00000455077.1:c.2754G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1764G>C
  hgvsp: ENST00000419036.1:c.1764G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.58G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1187G>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1037Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-27433284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433284
    reference: chr 3
allele count: 1
allele frequency: 1.134584401733645e-5
allele num: 88138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1759G>A
  hgvsp: ENSP00000411031.1:p.Val587Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3082G>A
  hgvsp: ENSP00000406605.1:p.Val1028Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2794G>A
  hgvsp: ENSP00000388703.1:p.Val932Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1756G>A
  hgvsp: ENSP00000373429.4:p.Val586Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3094G>A
  hgvsp: ENSP00000406804.1:p.Val1032Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1182G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2749G>A
  hgvsp: ENSP00000407382.1:p.Val917Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1182G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3133G>A
  hgvsp: ENSP00000390394.1:p.Val1045Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2749G>A
  hgvsp: ENSP00000394252.1:p.Val917Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2734G>A
  hgvsp: ENSP00000416368.1:p.Val912Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3094G>A
  hgvsp: ENSP00000414797.1:p.Val1032Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2761G>A
  hgvsp: ENSP00000395336.2:p.Val921Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.53G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1182G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3106G>A
  hgvsp: ENSP00000295736.5:p.Val1036Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1182G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1036Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-27433312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433312
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433312
    reference: chr 3
allele count: 7
allele frequency: 8.628340400354995e-5
allele num: 81128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.25A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-13A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-13A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-27433313-GAAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433310
    reference: chr 3
allele count: 1
allele frequency: 1.2360633853304e-5
allele num: 80902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-17_3079-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-17_*1167-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-17_*1167-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-17_2734-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-17_3118-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-17_2734-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-17_1741-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-17_*1167-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-17_1744-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-17_2779-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-17_3079-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.21_23delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-17_2746-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-17_3091-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-17_3067-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-17_2719-15delGTT
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-17_*1167-15delGTT
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GAAC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-27433315-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433315
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433315
    reference: chr 3
allele count: 3
allele frequency: 3.730044263191923e-5
allele num: 80428
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.22T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-16T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-16T>G
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-27433322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433322
    reference: chr 3
allele count: 1
allele frequency: 1.266175390615108e-5
allele num: 78978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.15A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-23A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-23A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

3-27433322-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433322
    reference: chr 3
allele count: 13
allele frequency: 1.64602800779964e-4
allele num: 78978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.15A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-23A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-23A>C
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16475
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

3-27433335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433335
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433335
    reference: chr 3
allele count: 1
allele frequency: 1.359175795797429e-5
allele num: 73574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000033867
  ensembl transcript: ENST00000465487
  gene symbol: SLC4A7
  hgvsc: ENST00000465487.1:n.2A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-36A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-36A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

3-27433337-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433337
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433337
    reference: chr 3
allele count: 1
allele frequency: 1.378359751895245e-5
allele num: 72550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-38C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-38C>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

3-27433341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433341
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433341
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 70798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-42C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-42C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-27433342-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433342
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433342
    reference: chr 3
allele count: 5
allele frequency: 7.106714423787595e-5
allele num: 70356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-43A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-43A>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16245
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-27433343-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433343
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433343
    reference: chr 3
allele count: 1
allele frequency: 1.432131297797382e-5
allele num: 69826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-44T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-44T>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19027
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

3-27433345-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433345
    reference: chr 3
allele count: 1
allele frequency: 1.453488372093023e-5
allele num: 68800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-46T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-46T>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

3-27433348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27433348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27433348
    reference: chr 3
allele count: 1
allele frequency: 1.460792333761832e-5
allele num: 68456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1167-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3091-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1744-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2746-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2719-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3118-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2779-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1167-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1167-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3067-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3079-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1167-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1741-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2734-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3079-49T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2734-49T>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-27435969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27435969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27435969
    reference: chr 3
allele count: 2
allele frequency: 1.70940170940171e-5
allele num: 117000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2733+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1166+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1740+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1166+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3078+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3090+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2778+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2718+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3117+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3066+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1166+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2745+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2733+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1166+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1743+40A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3078+40A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

3-27435985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27435985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27435985
    reference: chr 3
allele count: 1
allele frequency: 8.486658972095866e-6
allele num: 117832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1740+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3078+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1166+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2745+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3066+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3090+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2733+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2718+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1166+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2778+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1743+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1166+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3117+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3078+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1166+24T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2733+24T>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-27435989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27435989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27435989
    reference: chr 3
allele count: 8
allele frequency: 6.770939129257228e-5
allele num: 118152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1166+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1740+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2745+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2733+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2733+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3066+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3117+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2718+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3078+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1166+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2778+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1743+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1166+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1166+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3090+20G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3078+20G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-27436004-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436004
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436004
    reference: chr 3
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2745+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1743+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3090+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2733+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3066+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1166+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2778+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1740+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2733+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1166+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1166+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1166+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2718+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3117+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3078+5A>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3078+5A>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3090+5A>C
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

3-27436012-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436012
    reference: chr 3
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1737A>G
  hgvsp: ENST00000388777.4:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3075A>G
  hgvsp: ENST00000440156.1:c.3075A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3114A>G
  hgvsp: ENST00000454389.1:c.3114A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2715A>G
  hgvsp: ENST00000428386.1:c.2715A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1163A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3075A>G
  hgvsp: ENST00000445684.1:c.3075A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2730A>G
  hgvsp: ENST00000455077.1:c.2730A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2742A>G
  hgvsp: ENST00000435667.2:c.2742A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1740A>G
  hgvsp: ENST00000419036.1:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1163A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3063A>G
  hgvsp: ENST00000446700.1:c.3063A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2775A>G
  hgvsp: ENST00000428179.1:c.2775A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1163A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3087A>G
  hgvsp: ENST00000295736.5:c.3087A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2730A>G
  hgvsp: ENST00000437179.1:c.2730A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1163A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1029Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-27436030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436030
    reference: chr 3
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1719G>A
  hgvsp: ENST00000388777.4:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3057G>A
  hgvsp: ENST00000445684.1:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2697G>A
  hgvsp: ENST00000428386.1:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3057G>A
  hgvsp: ENST00000440156.1:c.3057G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1722G>A
  hgvsp: ENST00000419036.1:c.1722G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2724G>A
  hgvsp: ENST00000435667.2:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2757G>A
  hgvsp: ENST00000428179.1:c.2757G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3096G>A
  hgvsp: ENST00000454389.1:c.3096G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2712G>A
  hgvsp: ENST00000437179.1:c.2712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3069G>A
  hgvsp: ENST00000295736.5:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1145G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3045G>A
  hgvsp: ENST00000446700.1:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2712G>A
  hgvsp: ENST00000455077.1:c.2712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1145G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1145G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1145G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1023Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-27436047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436047
    reference: chr 3
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1128C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2740C>T
  hgvsp: ENST00000428179.1:c.2740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1128C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2695C>T
  hgvsp: ENST00000455077.1:c.2695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2695C>T
  hgvsp: ENST00000437179.1:c.2695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1702C>T
  hgvsp: ENST00000388777.4:c.1702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2707C>T
  hgvsp: ENST00000435667.2:c.2707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3079C>T
  hgvsp: ENST00000454389.1:c.3079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3028C>T
  hgvsp: ENST00000446700.1:c.3028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1705C>T
  hgvsp: ENST00000419036.1:c.1705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3040C>T
  hgvsp: ENST00000445684.1:c.3040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2680C>T
  hgvsp: ENST00000428386.1:c.2680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1128C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3052C>T
  hgvsp: ENST00000295736.5:c.3052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1128C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3040C>T
  hgvsp: ENST00000440156.1:c.3040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1018Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

3-27436048-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436048
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436048
    reference: chr 3
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1127T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1701T>A
  hgvsp: ENST00000388777.4:c.1701T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2694T>A
  hgvsp: ENST00000437179.1:c.2694T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3027T>A
  hgvsp: ENST00000446700.1:c.3027T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2739T>A
  hgvsp: ENST00000428179.1:c.2739T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2706T>A
  hgvsp: ENST00000435667.2:c.2706T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1127T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3078T>A
  hgvsp: ENST00000454389.1:c.3078T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3039T>A
  hgvsp: ENST00000445684.1:c.3039T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3039T>A
  hgvsp: ENST00000440156.1:c.3039T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2694T>A
  hgvsp: ENST00000455077.1:c.2694T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2679T>A
  hgvsp: ENST00000428386.1:c.2679T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1127T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1704T>A
  hgvsp: ENST00000419036.1:c.1704T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1127T>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3051T>A
  hgvsp: ENST00000295736.5:c.3051T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1017Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

3-27436062-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436062
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436062
    reference: chr 3
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2680C>A
  hgvsp: ENSP00000407382.1:p.Leu894Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3025C>A
  hgvsp: ENSP00000406804.1:p.Leu1009Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1687C>A
  hgvsp: ENSP00000373429.4:p.Leu563Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1690C>A
  hgvsp: ENSP00000411031.1:p.Leu564Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3025C>A
  hgvsp: ENSP00000414797.1:p.Leu1009Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1113C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2692C>A
  hgvsp: ENSP00000395336.2:p.Leu898Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3064C>A
  hgvsp: ENSP00000390394.1:p.Leu1022Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3013C>A
  hgvsp: ENSP00000406605.1:p.Leu1005Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2665C>A
  hgvsp: ENSP00000416368.1:p.Leu889Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2725C>A
  hgvsp: ENSP00000388703.1:p.Leu909Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1113C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1113C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1113C>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3037C>A
  hgvsp: ENSP00000295736.5:p.Leu1013Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2680C>A
  hgvsp: ENSP00000394252.1:p.Leu894Ile
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1013Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-27436072-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436072
    reference: chr 3
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2670G>T
  hgvsp: ENST00000455077.1:c.2670G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2682G>T
  hgvsp: ENST00000435667.2:c.2682G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1103G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1680G>T
  hgvsp: ENST00000419036.1:c.1680G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1103G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1677G>T
  hgvsp: ENST00000388777.4:c.1677G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2715G>T
  hgvsp: ENST00000428179.1:c.2715G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3027G>T
  hgvsp: ENST00000295736.5:c.3027G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3054G>T
  hgvsp: ENST00000454389.1:c.3054G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1103G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2670G>T
  hgvsp: ENST00000437179.1:c.2670G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1103G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3015G>T
  hgvsp: ENST00000445684.1:c.3015G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3015G>T
  hgvsp: ENST00000440156.1:c.3015G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2655G>T
  hgvsp: ENST00000428386.1:c.2655G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.3003G>T
  hgvsp: ENST00000446700.1:c.3003G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1009Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-27436080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436080
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436080
    reference: chr 3
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2662G>C
  hgvsp: ENSP00000407382.1:p.Glu888Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1095G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3019G>C
  hgvsp: ENSP00000295736.5:p.Glu1007Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1095G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3007G>C
  hgvsp: ENSP00000406804.1:p.Glu1003Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2995G>C
  hgvsp: ENSP00000406605.1:p.Glu999Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1669G>C
  hgvsp: ENSP00000373429.4:p.Glu557Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2707G>C
  hgvsp: ENSP00000388703.1:p.Glu903Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3046G>C
  hgvsp: ENSP00000390394.1:p.Glu1016Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1095G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1672G>C
  hgvsp: ENSP00000411031.1:p.Glu558Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2674G>C
  hgvsp: ENSP00000395336.2:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2647G>C
  hgvsp: ENSP00000416368.1:p.Glu883Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2662G>C
  hgvsp: ENSP00000394252.1:p.Glu888Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3007G>C
  hgvsp: ENSP00000414797.1:p.Glu1003Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1095G>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1007Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

3-27436082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436082
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436082
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1667G>A
  hgvsp: ENSP00000373429.4:p.Arg556His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1093G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3044G>A
  hgvsp: ENSP00000390394.1:p.Arg1015His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2660G>A
  hgvsp: ENSP00000407382.1:p.Arg887His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1093G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3005G>A
  hgvsp: ENSP00000414797.1:p.Arg1002His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2645G>A
  hgvsp: ENSP00000416368.1:p.Arg882His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3005G>A
  hgvsp: ENSP00000406804.1:p.Arg1002His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2993G>A
  hgvsp: ENSP00000406605.1:p.Arg998His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3017G>A
  hgvsp: ENSP00000295736.5:p.Arg1006His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2660G>A
  hgvsp: ENSP00000394252.1:p.Arg887His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2672G>A
  hgvsp: ENSP00000395336.2:p.Arg891His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1093G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1670G>A
  hgvsp: ENSP00000411031.1:p.Arg557His
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1093G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2705G>A
  hgvsp: ENSP00000388703.1:p.Arg902His
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1006His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

3-27436083-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436083
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436083
    reference: chr 3
allele count: 4
allele frequency: 3.296304842271814e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2671C>T
  hgvsp: ENSP00000395336.2:p.Arg891Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2704C>T
  hgvsp: ENSP00000388703.1:p.Arg902Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3043C>T
  hgvsp: ENSP00000390394.1:p.Arg1015Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2659C>T
  hgvsp: ENSP00000407382.1:p.Arg887Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3004C>T
  hgvsp: ENSP00000406804.1:p.Arg1002Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2659C>T
  hgvsp: ENSP00000394252.1:p.Arg887Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1669C>T
  hgvsp: ENSP00000411031.1:p.Arg557Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1092C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2644C>T
  hgvsp: ENSP00000416368.1:p.Arg882Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3016C>T
  hgvsp: ENSP00000295736.5:p.Arg1006Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1666C>T
  hgvsp: ENSP00000373429.4:p.Arg556Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3004C>T
  hgvsp: ENSP00000414797.1:p.Arg1002Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2992C>T
  hgvsp: ENSP00000406605.1:p.Arg998Cys
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1092C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1092C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1092C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg1006Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-27436083-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436083
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436083
    reference: chr 3
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2659C>G
  hgvsp: ENSP00000394252.1:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1092C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3043C>G
  hgvsp: ENSP00000390394.1:p.Arg1015Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1092C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3016C>G
  hgvsp: ENSP00000295736.5:p.Arg1006Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2671C>G
  hgvsp: ENSP00000395336.2:p.Arg891Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2659C>G
  hgvsp: ENSP00000407382.1:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2992C>G
  hgvsp: ENSP00000406605.1:p.Arg998Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1092C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2704C>G
  hgvsp: ENSP00000388703.1:p.Arg902Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1666C>G
  hgvsp: ENSP00000373429.4:p.Arg556Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1669C>G
  hgvsp: ENSP00000411031.1:p.Arg557Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3004C>G
  hgvsp: ENSP00000406804.1:p.Arg1002Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3004C>G
  hgvsp: ENSP00000414797.1:p.Arg1002Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2644C>G
  hgvsp: ENSP00000416368.1:p.Arg882Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1092C>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1006Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-27436087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436087
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436087
    reference: chr 3
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2700A>G
  hgvsp: ENST00000428179.1:c.2700A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1088A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2640A>G
  hgvsp: ENST00000428386.1:c.2640A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.3000A>G
  hgvsp: ENST00000445684.1:c.3000A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1662A>G
  hgvsp: ENST00000388777.4:c.1662A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1088A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3039A>G
  hgvsp: ENST00000454389.1:c.3039A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2988A>G
  hgvsp: ENST00000446700.1:c.2988A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2667A>G
  hgvsp: ENST00000435667.2:c.2667A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3012A>G
  hgvsp: ENST00000295736.5:c.3012A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2655A>G
  hgvsp: ENST00000455077.1:c.2655A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2655A>G
  hgvsp: ENST00000437179.1:c.2655A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1088A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1665A>G
  hgvsp: ENST00000419036.1:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.3000A>G
  hgvsp: ENST00000440156.1:c.3000A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1088A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1004Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

3-27436099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436099
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436099
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1650C>T
  hgvsp: ENST00000388777.4:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2988C>T
  hgvsp: ENST00000445684.1:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3027C>T
  hgvsp: ENST00000454389.1:c.3027C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2976C>T
  hgvsp: ENST00000446700.1:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2643C>T
  hgvsp: ENST00000437179.1:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2988C>T
  hgvsp: ENST00000440156.1:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2688C>T
  hgvsp: ENST00000428179.1:c.2688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.3000C>T
  hgvsp: ENST00000295736.5:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2655C>T
  hgvsp: ENST00000435667.2:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2628C>T
  hgvsp: ENST00000428386.1:c.2628C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2643C>T
  hgvsp: ENST00000455077.1:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1653C>T
  hgvsp: ENST00000419036.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1076C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1076C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1076C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1076C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1000Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-27436101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436101
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436101
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2626C>T
  hgvsp: ENSP00000416368.1:p.Pro876Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2686C>T
  hgvsp: ENSP00000388703.1:p.Pro896Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2974C>T
  hgvsp: ENSP00000406605.1:p.Pro992Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1651C>T
  hgvsp: ENSP00000411031.1:p.Pro551Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1074C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2653C>T
  hgvsp: ENSP00000395336.2:p.Pro885Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1648C>T
  hgvsp: ENSP00000373429.4:p.Pro550Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1074C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3025C>T
  hgvsp: ENSP00000390394.1:p.Pro1009Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2998C>T
  hgvsp: ENSP00000295736.5:p.Pro1000Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2986C>T
  hgvsp: ENSP00000414797.1:p.Pro996Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1074C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2641C>T
  hgvsp: ENSP00000407382.1:p.Pro881Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1074C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2986C>T
  hgvsp: ENSP00000406804.1:p.Pro996Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2641C>T
  hgvsp: ENSP00000394252.1:p.Pro881Ser
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1000Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-27436107-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436107
    reference: chr 3
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1068G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2647G>C
  hgvsp: ENSP00000395336.2:p.Glu883Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1645G>C
  hgvsp: ENSP00000411031.1:p.Glu549Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1068G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2980G>C
  hgvsp: ENSP00000414797.1:p.Glu994Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3019G>C
  hgvsp: ENSP00000390394.1:p.Glu1007Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1642G>C
  hgvsp: ENSP00000373429.4:p.Glu548Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2980G>C
  hgvsp: ENSP00000406804.1:p.Glu994Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2968G>C
  hgvsp: ENSP00000406605.1:p.Glu990Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2635G>C
  hgvsp: ENSP00000407382.1:p.Glu879Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1068G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2620G>C
  hgvsp: ENSP00000416368.1:p.Glu874Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1068G>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2635G>C
  hgvsp: ENSP00000394252.1:p.Glu879Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2992G>C
  hgvsp: ENSP00000295736.5:p.Glu998Gln
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2680G>C
  hgvsp: ENSP00000388703.1:p.Glu894Gln
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu998Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-27436115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436115
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436115
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2972C>T
  hgvsp: ENSP00000406804.1:p.Ala991Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2627C>T
  hgvsp: ENSP00000407382.1:p.Ala876Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2612C>T
  hgvsp: ENSP00000416368.1:p.Ala871Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1060C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1637C>T
  hgvsp: ENSP00000411031.1:p.Ala546Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2984C>T
  hgvsp: ENSP00000295736.5:p.Ala995Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2627C>T
  hgvsp: ENSP00000394252.1:p.Ala876Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1634C>T
  hgvsp: ENSP00000373429.4:p.Ala545Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1060C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1060C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2639C>T
  hgvsp: ENSP00000395336.2:p.Ala880Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2960C>T
  hgvsp: ENSP00000406605.1:p.Ala987Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2972C>T
  hgvsp: ENSP00000414797.1:p.Ala991Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1060C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2672C>T
  hgvsp: ENSP00000388703.1:p.Ala891Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3011C>T
  hgvsp: ENSP00000390394.1:p.Ala1004Val
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala995Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-27436117-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436117
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436117
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2625T>C
  hgvsp: ENST00000437179.1:c.2625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1632T>C
  hgvsp: ENST00000388777.4:c.1632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2970T>C
  hgvsp: ENST00000445684.1:c.2970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2982T>C
  hgvsp: ENST00000295736.5:c.2982T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2637T>C
  hgvsp: ENST00000435667.2:c.2637T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2970T>C
  hgvsp: ENST00000440156.1:c.2970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1635T>C
  hgvsp: ENST00000419036.1:c.1635T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2625T>C
  hgvsp: ENST00000455077.1:c.2625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3009T>C
  hgvsp: ENST00000454389.1:c.3009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2610T>C
  hgvsp: ENST00000428386.1:c.2610T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2670T>C
  hgvsp: ENST00000428179.1:c.2670T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1058T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2958T>C
  hgvsp: ENST00000446700.1:c.2958T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser994Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-27436123-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436123
    reference: chr 3
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2664A>T
  hgvsp: ENSP00000388703.1:p.Glu888Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2976A>T
  hgvsp: ENSP00000295736.5:p.Glu992Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2619A>T
  hgvsp: ENSP00000407382.1:p.Glu873Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1052A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.3003A>T
  hgvsp: ENSP00000390394.1:p.Glu1001Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2631A>T
  hgvsp: ENSP00000395336.2:p.Glu877Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2964A>T
  hgvsp: ENSP00000406804.1:p.Glu988Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2619A>T
  hgvsp: ENSP00000394252.1:p.Glu873Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1629A>T
  hgvsp: ENSP00000411031.1:p.Glu543Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2964A>T
  hgvsp: ENSP00000414797.1:p.Glu988Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2604A>T
  hgvsp: ENSP00000416368.1:p.Glu868Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1052A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1626A>T
  hgvsp: ENSP00000373429.4:p.Glu542Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2952A>T
  hgvsp: ENSP00000406605.1:p.Glu984Asp
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1052A>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1052A>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu992Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

3-27436127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436127
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436127
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2615C>T
  hgvsp: ENSP00000394252.1:p.Ser872Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2627C>T
  hgvsp: ENSP00000395336.2:p.Ser876Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2960C>T
  hgvsp: ENSP00000414797.1:p.Ser987Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1625C>T
  hgvsp: ENSP00000411031.1:p.Ser542Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2999C>T
  hgvsp: ENSP00000390394.1:p.Ser1000Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2972C>T
  hgvsp: ENSP00000295736.5:p.Ser991Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2600C>T
  hgvsp: ENSP00000416368.1:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2948C>T
  hgvsp: ENSP00000406605.1:p.Ser983Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2615C>T
  hgvsp: ENSP00000407382.1:p.Ser872Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2960C>T
  hgvsp: ENSP00000406804.1:p.Ser987Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2660C>T
  hgvsp: ENSP00000388703.1:p.Ser887Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1048C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1622C>T
  hgvsp: ENSP00000373429.4:p.Ser541Phe
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser991Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

3-27436144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436144
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436144
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1031C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2943C>T
  hgvsp: ENST00000440156.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2982C>T
  hgvsp: ENST00000454389.1:c.2982C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1031C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2931C>T
  hgvsp: ENST00000446700.1:c.2931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2643C>T
  hgvsp: ENST00000428179.1:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1031C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2598C>T
  hgvsp: ENST00000455077.1:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2955C>T
  hgvsp: ENST00000295736.5:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2583C>T
  hgvsp: ENST00000428386.1:c.2583C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2598C>T
  hgvsp: ENST00000437179.1:c.2598C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1605C>T
  hgvsp: ENST00000388777.4:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1608C>T
  hgvsp: ENST00000419036.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1031C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2610C>T
  hgvsp: ENST00000435667.2:c.2610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2943C>T
  hgvsp: ENST00000445684.1:c.2943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn985Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

3-27436145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436145
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436145
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1030A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2597A>G
  hgvsp: ENSP00000407382.1:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2609A>G
  hgvsp: ENSP00000395336.2:p.Asn870Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2942A>G
  hgvsp: ENSP00000406804.1:p.Asn981Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2981A>G
  hgvsp: ENSP00000390394.1:p.Asn994Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2930A>G
  hgvsp: ENSP00000406605.1:p.Asn977Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1030A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2942A>G
  hgvsp: ENSP00000414797.1:p.Asn981Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1604A>G
  hgvsp: ENSP00000373429.4:p.Asn535Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2597A>G
  hgvsp: ENSP00000394252.1:p.Asn866Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1030A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2954A>G
  hgvsp: ENSP00000295736.5:p.Asn985Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1607A>G
  hgvsp: ENSP00000411031.1:p.Asn536Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2582A>G
  hgvsp: ENSP00000416368.1:p.Asn861Ser
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1030A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2642A>G
  hgvsp: ENSP00000388703.1:p.Asn881Ser
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn985Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-27436148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436148
    reference: chr 3
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2927T>C
  hgvsp: ENSP00000406605.1:p.Val976Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2606T>C
  hgvsp: ENSP00000395336.2:p.Val869Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2594T>C
  hgvsp: ENSP00000407382.1:p.Val865Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1601T>C
  hgvsp: ENSP00000373429.4:p.Val534Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1027T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1027T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1027T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2639T>C
  hgvsp: ENSP00000388703.1:p.Val880Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2939T>C
  hgvsp: ENSP00000414797.1:p.Val980Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1027T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2579T>C
  hgvsp: ENSP00000416368.1:p.Val860Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2939T>C
  hgvsp: ENSP00000406804.1:p.Val980Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2978T>C
  hgvsp: ENSP00000390394.1:p.Val993Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2594T>C
  hgvsp: ENSP00000394252.1:p.Val865Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1604T>C
  hgvsp: ENSP00000411031.1:p.Val535Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2951T>C
  hgvsp: ENSP00000295736.5:p.Val984Ala
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val984Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-27436150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436150
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2577T>C
  hgvsp: ENST00000428386.1:c.2577T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2637T>C
  hgvsp: ENST00000428179.1:c.2637T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1025T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2592T>C
  hgvsp: ENST00000455077.1:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1599T>C
  hgvsp: ENST00000388777.4:c.1599T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1025T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1025T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2925T>C
  hgvsp: ENST00000446700.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1602T>C
  hgvsp: ENST00000419036.1:c.1602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2937T>C
  hgvsp: ENST00000440156.1:c.2937T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2604T>C
  hgvsp: ENST00000435667.2:c.2604T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2592T>C
  hgvsp: ENST00000437179.1:c.2592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2937T>C
  hgvsp: ENST00000445684.1:c.2937T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2976T>C
  hgvsp: ENST00000454389.1:c.2976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2949T>C
  hgvsp: ENST00000295736.5:c.2949T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1025T>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His983His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

3-27436158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436158
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436158
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2596A>G
  hgvsp: ENSP00000395336.2:p.Ile866Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1017A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2968A>G
  hgvsp: ENSP00000390394.1:p.Ile990Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1017A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1594A>G
  hgvsp: ENSP00000411031.1:p.Ile532Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2941A>G
  hgvsp: ENSP00000295736.5:p.Ile981Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2929A>G
  hgvsp: ENSP00000414797.1:p.Ile977Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2584A>G
  hgvsp: ENSP00000407382.1:p.Ile862Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2929A>G
  hgvsp: ENSP00000406804.1:p.Ile977Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1017A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2917A>G
  hgvsp: ENSP00000406605.1:p.Ile973Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2629A>G
  hgvsp: ENSP00000388703.1:p.Ile877Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2584A>G
  hgvsp: ENSP00000394252.1:p.Ile862Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2569A>G
  hgvsp: ENSP00000416368.1:p.Ile857Val
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1017A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1591A>G
  hgvsp: ENSP00000373429.4:p.Ile531Val
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile981Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-27436172-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436172
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436172
    reference: chr 3
allele count: 20
allele frequency: 1.655026314918407e-4
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2582C>G
  hgvsp: ENSP00000395336.2:p.Ala861Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1577C>G
  hgvsp: ENSP00000373429.4:p.Ala526Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*1003C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1580C>G
  hgvsp: ENSP00000411031.1:p.Ala527Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2555C>G
  hgvsp: ENSP00000416368.1:p.Ala852Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2903C>G
  hgvsp: ENSP00000406605.1:p.Ala968Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2927C>G
  hgvsp: ENSP00000295736.5:p.Ala976Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*1003C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2570C>G
  hgvsp: ENSP00000407382.1:p.Ala857Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2915C>G
  hgvsp: ENSP00000406804.1:p.Ala972Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2615C>G
  hgvsp: ENSP00000388703.1:p.Ala872Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2954C>G
  hgvsp: ENSP00000390394.1:p.Ala985Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2570C>G
  hgvsp: ENSP00000394252.1:p.Ala857Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2915C>G
  hgvsp: ENSP00000414797.1:p.Ala972Gly
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*1003C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*1003C>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala976Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

3-27436188-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436188
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2539C>G
  hgvsp: ENSP00000416368.1:p.Pro847Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1564C>G
  hgvsp: ENSP00000411031.1:p.Pro522Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2899C>G
  hgvsp: ENSP00000406804.1:p.Pro967Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2938C>G
  hgvsp: ENSP00000390394.1:p.Pro980Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2899C>G
  hgvsp: ENSP00000414797.1:p.Pro967Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2887C>G
  hgvsp: ENSP00000406605.1:p.Pro963Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*987C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2554C>G
  hgvsp: ENSP00000407382.1:p.Pro852Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2599C>G
  hgvsp: ENSP00000388703.1:p.Pro867Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2566C>G
  hgvsp: ENSP00000395336.2:p.Pro856Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*987C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1561C>G
  hgvsp: ENSP00000373429.4:p.Pro521Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2911C>G
  hgvsp: ENSP00000295736.5:p.Pro971Ala
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*987C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*987C>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2554C>G
  hgvsp: ENSP00000394252.1:p.Pro852Ala
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro971Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

3-27436192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436192
    reference: chr 3
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2550A>G
  hgvsp: ENST00000437179.1:c.2550A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1557A>G
  hgvsp: ENST00000388777.4:c.1557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*983A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2535A>G
  hgvsp: ENST00000428386.1:c.2535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2907A>G
  hgvsp: ENST00000295736.5:c.2907A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*983A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1560A>G
  hgvsp: ENST00000419036.1:c.1560A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2895A>G
  hgvsp: ENST00000440156.1:c.2895A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2550A>G
  hgvsp: ENST00000455077.1:c.2550A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*983A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2895A>G
  hgvsp: ENST00000445684.1:c.2895A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2883A>G
  hgvsp: ENST00000446700.1:c.2883A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2562A>G
  hgvsp: ENST00000435667.2:c.2562A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*983A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2595A>G
  hgvsp: ENST00000428179.1:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2934A>G
  hgvsp: ENST00000454389.1:c.2934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly969Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-27436217-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436217
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2570T>C
  hgvsp: ENSP00000388703.1:p.Met857Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2858T>C
  hgvsp: ENSP00000406605.1:p.Met953Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2870T>C
  hgvsp: ENSP00000414797.1:p.Met957Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2525T>C
  hgvsp: ENSP00000407382.1:p.Met842Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*958T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2870T>C
  hgvsp: ENSP00000406804.1:p.Met957Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2909T>C
  hgvsp: ENSP00000390394.1:p.Met970Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2525T>C
  hgvsp: ENSP00000394252.1:p.Met842Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1532T>C
  hgvsp: ENSP00000373429.4:p.Met511Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*958T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1535T>C
  hgvsp: ENSP00000411031.1:p.Met512Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*958T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2537T>C
  hgvsp: ENSP00000395336.2:p.Met846Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*958T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2510T>C
  hgvsp: ENSP00000416368.1:p.Met837Thr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2882T>C
  hgvsp: ENSP00000295736.5:p.Met961Thr
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met961Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-27436217-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436217
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436217
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2537T>G
  hgvsp: ENSP00000395336.2:p.Met846Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2525T>G
  hgvsp: ENSP00000407382.1:p.Met842Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1532T>G
  hgvsp: ENSP00000373429.4:p.Met511Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2882T>G
  hgvsp: ENSP00000295736.5:p.Met961Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2510T>G
  hgvsp: ENSP00000416368.1:p.Met837Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2870T>G
  hgvsp: ENSP00000414797.1:p.Met957Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2858T>G
  hgvsp: ENSP00000406605.1:p.Met953Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2525T>G
  hgvsp: ENSP00000394252.1:p.Met842Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2570T>G
  hgvsp: ENSP00000388703.1:p.Met857Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*958T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*958T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*958T>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2870T>G
  hgvsp: ENSP00000406804.1:p.Met957Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2909T>G
  hgvsp: ENSP00000390394.1:p.Met970Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1535T>G
  hgvsp: ENSP00000411031.1:p.Met512Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*958T>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met961Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-27436221-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436221
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2506G>T
  hgvsp: ENSP00000416368.1:p.Val836Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2878G>T
  hgvsp: ENSP00000295736.5:p.Val960Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1528G>T
  hgvsp: ENSP00000373429.4:p.Val510Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*954G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2866G>T
  hgvsp: ENSP00000406804.1:p.Val956Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2521G>T
  hgvsp: ENSP00000394252.1:p.Val841Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*954G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*954G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2854G>T
  hgvsp: ENSP00000406605.1:p.Val952Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2521G>T
  hgvsp: ENSP00000407382.1:p.Val841Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2905G>T
  hgvsp: ENSP00000390394.1:p.Val969Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2866G>T
  hgvsp: ENSP00000414797.1:p.Val956Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2533G>T
  hgvsp: ENSP00000395336.2:p.Val845Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2566G>T
  hgvsp: ENSP00000388703.1:p.Val856Phe
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*954G>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1531G>T
  hgvsp: ENSP00000411031.1:p.Val511Phe
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val960Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-27436221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436221
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436221
    reference: chr 3
allele count: 10
allele frequency: 8.239539904091755e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1528G>A
  hgvsp: ENSP00000373429.4:p.Val510Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1531G>A
  hgvsp: ENSP00000411031.1:p.Val511Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2521G>A
  hgvsp: ENSP00000407382.1:p.Val841Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2878G>A
  hgvsp: ENSP00000295736.5:p.Val960Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2566G>A
  hgvsp: ENSP00000388703.1:p.Val856Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2866G>A
  hgvsp: ENSP00000406804.1:p.Val956Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2506G>A
  hgvsp: ENSP00000416368.1:p.Val836Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2854G>A
  hgvsp: ENSP00000406605.1:p.Val952Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*954G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2866G>A
  hgvsp: ENSP00000414797.1:p.Val956Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*954G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2533G>A
  hgvsp: ENSP00000395336.2:p.Val845Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2521G>A
  hgvsp: ENSP00000394252.1:p.Val841Ile
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*954G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*954G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2905G>A
  hgvsp: ENSP00000390394.1:p.Val969Ile
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val960Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-27436222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436222
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2904C>T
  hgvsp: ENST00000454389.1:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2565C>T
  hgvsp: ENST00000428179.1:c.2565C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2877C>T
  hgvsp: ENST00000295736.5:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*953C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2520C>T
  hgvsp: ENST00000437179.1:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2853C>T
  hgvsp: ENST00000446700.1:c.2853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2520C>T
  hgvsp: ENST00000455077.1:c.2520C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1527C>T
  hgvsp: ENST00000388777.4:c.1527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2865C>T
  hgvsp: ENST00000440156.1:c.2865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2505C>T
  hgvsp: ENST00000428386.1:c.2505C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*953C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2865C>T
  hgvsp: ENST00000445684.1:c.2865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1530C>T
  hgvsp: ENST00000419036.1:c.1530C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2532C>T
  hgvsp: ENST00000435667.2:c.2532C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*953C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*953C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly959Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

3-27436243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436243
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436243
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2484C>T
  hgvsp: ENST00000428386.1:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2883C>T
  hgvsp: ENST00000454389.1:c.2883C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2511C>T
  hgvsp: ENST00000435667.2:c.2511C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1506C>T
  hgvsp: ENST00000388777.4:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2844C>T
  hgvsp: ENST00000445684.1:c.2844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2832C>T
  hgvsp: ENST00000446700.1:c.2832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*932C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*932C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2499C>T
  hgvsp: ENST00000455077.1:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*932C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1509C>T
  hgvsp: ENST00000419036.1:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2544C>T
  hgvsp: ENST00000428179.1:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2844C>T
  hgvsp: ENST00000440156.1:c.2844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2856C>T
  hgvsp: ENST00000295736.5:c.2856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2499C>T
  hgvsp: ENST00000437179.1:c.2499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*932C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His952His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-27436245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436245
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436245
    reference: chr 3
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2881C>T
  hgvsp: ENSP00000390394.1:p.His961Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2842C>T
  hgvsp: ENSP00000406804.1:p.His948Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2509C>T
  hgvsp: ENSP00000395336.2:p.His837Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2842C>T
  hgvsp: ENSP00000414797.1:p.His948Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2497C>T
  hgvsp: ENSP00000407382.1:p.His833Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2497C>T
  hgvsp: ENSP00000394252.1:p.His833Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2542C>T
  hgvsp: ENSP00000388703.1:p.His848Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2830C>T
  hgvsp: ENSP00000406605.1:p.His944Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*930C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*930C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1504C>T
  hgvsp: ENSP00000373429.4:p.His502Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*930C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1507C>T
  hgvsp: ENSP00000411031.1:p.His503Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2854C>T
  hgvsp: ENSP00000295736.5:p.His952Tyr
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*930C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2482C>T
  hgvsp: ENSP00000416368.1:p.His828Tyr
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His952Tyr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-27436249-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436249
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436248
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*925delG
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2825delG
  hgvsp: ENSP00000406605.1:p.Gly942AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2537delG
  hgvsp: ENSP00000388703.1:p.Gly846AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2837delG
  hgvsp: ENSP00000406804.1:p.Gly946AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1499delG
  hgvsp: ENSP00000373429.4:p.Gly500AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1502delG
  hgvsp: ENSP00000411031.1:p.Gly501AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2477delG
  hgvsp: ENSP00000416368.1:p.Gly826AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2492delG
  hgvsp: ENSP00000407382.1:p.Gly831AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*925delG
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*925delG
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2837delG
  hgvsp: ENSP00000414797.1:p.Gly946AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2504delG
  hgvsp: ENSP00000395336.2:p.Gly835AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2492delG
  hgvsp: ENSP00000394252.1:p.Gly831AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2849delG
  hgvsp: ENSP00000295736.5:p.Gly950AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*925delG
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2876delG
  hgvsp: ENSP00000390394.1:p.Gly959AlafsTer32
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly950AlafsTer32
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: GC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

3-27436257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436257
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436257
    reference: chr 3
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*918G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2470G>A
  hgvsp: ENSP00000416368.1:p.Gly824Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1492G>A
  hgvsp: ENSP00000373429.4:p.Gly498Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2497G>A
  hgvsp: ENSP00000395336.2:p.Gly833Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2830G>A
  hgvsp: ENSP00000406804.1:p.Gly944Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2485G>A
  hgvsp: ENSP00000394252.1:p.Gly829Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2869G>A
  hgvsp: ENSP00000390394.1:p.Gly957Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2830G>A
  hgvsp: ENSP00000414797.1:p.Gly944Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2485G>A
  hgvsp: ENSP00000407382.1:p.Gly829Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2818G>A
  hgvsp: ENSP00000406605.1:p.Gly940Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*918G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*918G>A
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2842G>A
  hgvsp: ENSP00000295736.5:p.Gly948Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2530G>A
  hgvsp: ENSP00000388703.1:p.Gly844Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1495G>A
  hgvsp: ENSP00000411031.1:p.Gly499Arg
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*918G>A
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly948Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-27436265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436265
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436265
    reference: chr 3
allele count: 4
allele frequency: 3.315430011272462e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*915-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2467-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1489-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2482-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2827-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1492-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2527-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*915-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2866-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2827-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*915-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2839-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2494-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2482-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*915-5T>C
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2815-5T>C
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2839-5T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

3-27436280-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436280
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436280
    reference: chr 3
allele count: 2
allele frequency: 1.667917604870319e-5
allele num: 119910
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2839-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2494-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1489-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2467-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*915-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2482-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*915-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*915-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2866-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2482-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1492-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2827-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*915-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2527-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2827-20A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2815-20A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-27436284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436284
    reference: chr 3
allele count: 1
allele frequency: 8.34432002136146e-6
allele num: 119842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1489-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*915-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2827-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2494-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*915-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2467-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2482-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2866-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2839-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*915-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2827-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1492-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2815-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2527-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2482-24A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*915-24A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

3-27436286-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436286
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436286
    reference: chr 3
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000388703
  ensembl transcript: ENST00000428179
  gene symbol: SLC4A7
  hgvsc: ENST00000428179.1:c.2527-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407304
  ensembl transcript: ENST00000438530
  gene symbol: SLC4A7
  hgvsc: ENST00000438530.1:c.*915-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000411031
  ensembl transcript: ENST00000419036
  gene symbol: SLC4A7
  hgvsc: ENST00000419036.1:c.1492-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000416368
  ensembl transcript: ENST00000428386
  gene symbol: SLC4A7
  hgvsc: ENST00000428386.1:c.2467-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000394252
  ensembl transcript: ENST00000437179
  gene symbol: SLC4A7
  hgvsc: ENST00000437179.1:c.2482-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406804
  ensembl transcript: ENST00000445684
  gene symbol: SLC4A7
  hgvsc: ENST00000445684.1:c.2827-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000407382
  ensembl transcript: ENST00000455077
  gene symbol: SLC4A7
  hgvsc: ENST00000455077.1:c.2482-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000373429
  ensembl transcript: ENST00000388777
  gene symbol: SLC4A7
  hgvsc: ENST00000388777.4:c.1489-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000390394
  ensembl transcript: ENST00000454389
  gene symbol: SLC4A7
  hgvsc: ENST00000454389.1:c.2866-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000395336
  ensembl transcript: ENST00000435667
  gene symbol: SLC4A7
  hgvsc: ENST00000435667.2:c.2494-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000409418
  ensembl transcript: ENST00000437266
  gene symbol: SLC4A7
  hgvsc: ENST00000437266.1:c.*915-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000401949
  ensembl transcript: ENST00000425128
  gene symbol: SLC4A7
  hgvsc: ENST00000425128.2:c.*915-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*915-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2827-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000295736
  ensembl transcript: ENST00000295736
  gene symbol: SLC4A7
  hgvsc: ENST00000295736.5:c.2839-26A>G
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2815-26A>G
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

3-27436293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27436293
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 27436293
    reference: chr 3
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000408323
  ensembl transcript: ENST00000457377
  gene symbol: SLC4A7
  hgvsc: ENST00000457377.1:c.*915-33C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000406605
  ensembl transcript: ENST00000446700
  gene symbol: SLC4A7
  hgvsc: ENST00000446700.1:c.2815-33C>T
  variant of: http://identifiers.org/hgnc/11033
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000033867
  ensembl protein: ENSP00000414797
  ensembl transcript: ENST00000440156
  gene symbol: SLC4A7
  hgvsc: ENST00000440156.1:c.2827-33C>T
  variant of: http://identifiers.org/hgnc/11033
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 6634
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 348
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8299
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26386
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7157
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2075
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23008
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.825242718446602e-4
allele num: 5150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 6.408e0

DP
type: SiteQuality
SIO_000300: 8.87398e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeDepth
all individuals: 1351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6862
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8929
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 841
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3921
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3400
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.980982567353407e-4
allele num: 5048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23716
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 9.16749e5

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 3.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4129
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 764
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 518
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26372
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 5985
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3910
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16355
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 8.233841086867024e-4
allele num: 4858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.986e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.015061e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeDepth
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1479
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4809
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2262
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21002
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

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

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

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

FS
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MQ
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 4
allele frequency: 1.186661920018987e-4
allele num: 33708
num of homozygotes: 0

Latino
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Other
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East Asian
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African
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allele num: 6742
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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MQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 33370
num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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East Asian
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African
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Latino
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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FS
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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VQSLOD
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FS
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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MQ
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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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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African
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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DP
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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DP
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QD
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MQRankSum
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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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MQ
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VQSLOD
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FS
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Latino
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European (Non-Finnish)
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African
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DP
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QD
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 2.623045e6

QD
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SIO_000300: 1.525e1

ClippingRankSum
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SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.364e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele 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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 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 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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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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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SIO_000300: 1.17e0

FS
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QD
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
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SIO_000300: 1.94e-2

ClippingRankSum
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SIO_000300: -8.84e-1

MQ
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SIO_000300: 5.967e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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QD
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DP
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

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

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

South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Latino
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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Other
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South Asian
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African
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QD
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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African
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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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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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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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European (Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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South Asian
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European (Finnish)
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Latino
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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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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East Asian
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South Asian
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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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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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: 9.51e-1

VQSLOD
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MQ
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SIO_000300: 5.966e1

QD
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ClippingRankSum
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MQRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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African
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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

Other
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.976e1

QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

InbreedingCoeff
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SIO_000300: 0.0e0

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

GenotypeDepth
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variant carriers: 0

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

Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 10406
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -6.5e-2

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -4.5e-1

GenotypeDepth
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 4.0e-4

DP
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MQRankSum
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SIO_000300: 1.88e-1

ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66722
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Latino
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Other
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European (Finnish)
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African
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East Asian
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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DP
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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QD
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DP
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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ClippingRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.487562189054726e-4
allele num: 16080
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.437e1

FS
type: SiteQuality
SIO_000300: 1.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.617052e6

GenotypeDepth
all individuals: 6850
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31248
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

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: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
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: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.397134083930399e-5
allele num: 15632
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 3.889e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 2.587317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

GenotypeDepth
all individuals: 1240
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2584
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 462
bin: 8.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
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variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

FS
type: SiteQuality
SIO_000300: 1.1566e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.582709e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeDepth
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 2025
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variant carriers: 0

GenotypeQuality
all individuals: 1706
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variant carriers: 0

GenotypeQuality
all individuals: 2714
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509206157561123e-5
allele num: 66260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 9.42e0

FS
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -1.177e0

DP
type: SiteQuality
SIO_000300: 2.578769e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: -1.182e0