11-5345529-G-GTGTATCCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5345529
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5345538
    reference: chr 11
allele count: 1
allele frequency: 1.160496692584426e-5
allele num: 86170
alternate allele: GTGTATCCAC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184881
  ensembl protein: ENSP00000327540
  ensembl transcript: ENST00000328813
  gene symbol: OR51B2
  hgvsc: ENST00000328813.2:c.-11_-3dupGTGGATACA
  variant of: http://identifiers.org/hgnc/14703
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21949
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

11-5345539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5345539
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5345539
    reference: chr 11
allele count: 11
allele frequency: 1.570306923625981e-4
allele num: 70050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-69795G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184881
  ensembl protein: ENSP00000327540
  ensembl transcript: ENST00000328813
  gene symbol: OR51B2
  hgvsc: ENST00000328813.2:c.-12G>A
  variant of: http://identifiers.org/hgnc/14703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+21464G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.300-18632G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-42358G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-54153G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18803
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-5345540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5345540
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5345540
    reference: chr 11
allele count: 4
allele frequency: 5.792568135082689e-5
allele num: 69054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-54154C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.300-18633C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-42359C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-69796C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184881
  ensembl protein: ENSP00000327540
  ensembl transcript: ENST00000328813
  gene symbol: OR51B2
  hgvsc: ENST00000328813.2:c.-13C>T
  variant of: http://identifiers.org/hgnc/14703
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+21463C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

11-5345546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5345546
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5345546
    reference: chr 11
allele count: 1
allele frequency: 1.590988640341108e-5
allele num: 62854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+21457C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-42365C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.300-18639C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-54160C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184881
  ensembl protein: ENSP00000327540
  ensembl transcript: ENST00000328813
  gene symbol: OR51B2
  hgvsc: ENST00000328813.2:c.-19C>T
  variant of: http://identifiers.org/hgnc/14703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-69802C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

11-5345547-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5345547
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5345547
    reference: chr 11
allele count: 1
allele frequency: 1.606683804627249e-5
allele num: 62240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000184881
  ensembl protein: ENSP00000327540
  ensembl transcript: ENST00000328813
  gene symbol: OR51B2
  hgvsc: ENST00000328813.2:c.-20T>A
  variant of: http://identifiers.org/hgnc/14703
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-54161T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+21456T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-42366T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-69803T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.300-18640T>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23649
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-5363765-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363765
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363765
    reference: chr 11
allele count: 1
allele frequency: 9.3722469024724e-6
allele num: 106698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1173G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72379G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3238G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88021G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60584G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3238G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*51G>T
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1173G>T
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

11-5363765-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363765
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363765
    reference: chr 11
allele count: 2
allele frequency: 1.87444938049448e-5
allele num: 106698
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1173G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88021G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1173G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3238G>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*51G>C
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60584G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3238G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72379G>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7284
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-5363766-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363766
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363766
    reference: chr 11
allele count: 1
allele frequency: 9.358388859773901e-6
allele num: 106856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60585A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3237A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*50A>T
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1174A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88022A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3237A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1174A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72380A>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12399
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-5363767-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363767
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363767
    reference: chr 11
allele count: 2
allele frequency: 1.872028155303456e-5
allele num: 106836
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*49T>C
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1175T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1175T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88023T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60586T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3236T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72381T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3236T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-5363769-A-ATATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363769
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363773
    reference: chr 11
allele count: 4
allele frequency: 3.740904924901334e-5
allele num: 106926
alternate allele: ATATT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1181_557-1178dupAATA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1181_339-1178dupAATA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3230_299+3233dupAATA
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*43_*46dupAATA
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88029_63-88026dupAATA
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72387_-266-72384dupAATA
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3230_-438+3233dupAATA
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60592_-309-60589dupAATA
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

11-5363769-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363769
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363769
    reference: chr 11
allele count: 2
allele frequency: 1.870452462450667e-5
allele num: 106926
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1177T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1177T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3234T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3234T>A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*47T>A
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72383T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60588T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88025T>A
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14003
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7294
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

11-5363773-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363773
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363773
    reference: chr 11
allele count: 1
allele frequency: 9.343349403894308e-6
allele num: 107028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3230A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88029A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*43A>C
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3230A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1181A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1181A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60592A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72387A>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

11-5363775-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363775
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363775
    reference: chr 11
allele count: 1
allele frequency: 9.349988780013463e-6
allele num: 106952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3228C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3228C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72389C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88031C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*41C>G
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60594C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1183C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1183C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-5363775-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363775
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363774
    reference: chr 11
allele count: 1
allele frequency: 9.349988780013463e-6
allele num: 106952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72390delT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1184delT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88032delT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*40delT
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60595delT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3227delT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3227delT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1184delT
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: GA
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-5363790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363790
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363790
    reference: chr 11
allele count: 1
allele frequency: 9.232928315544558e-6
allele num: 108308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3213C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3213C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1198C>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*26C>G
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88046C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60609C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72404C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1198C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-5363792-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363792
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363792
    reference: chr 11
allele count: 1
allele frequency: 9.216929656392862e-6
allele num: 108496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60611C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1200C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1200C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3211C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72406C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*24C>G
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88048C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3211C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-5363794-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363794
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363794
    reference: chr 11
allele count: 1
allele frequency: 9.201155665151542e-6
allele num: 108682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88050C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60613C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*22C>G
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3209C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72408C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1202C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3209C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1202C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

11-5363795-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363795
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363793
    reference: chr 11
allele count: 303
allele frequency: 2.784209945969787e-3
allele num: 108828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60616_-309-60615delAC
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3206_-438+3207delAC
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3206_299+3207delAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88053_63-88052delAC
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1205_339-1204delAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72411_-266-72410delAC
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1205_557-1204delAC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*19_*20delAC
  variant of: http://identifiers.org/hgnc/19599
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 23247
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 6896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7676
  bin: 9.75e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 3
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: AGT
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-5363800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363800
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 109316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*16G>A
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88056G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1208G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3203G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1208G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3203G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60619G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72414G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-5363808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363808
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363808
    reference: chr 11
allele count: 1
allele frequency: 9.099181073703366e-6
allele num: 109900
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3195T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1216T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72422T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60627T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3195T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.*8T>C
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88064T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1216T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-5363816-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363816
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363816
    reference: chr 11
allele count: 1
allele frequency: 9.061910975786574e-6
allele num: 110352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3187A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60635A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.939A>T
  hgvsp: ENSP00000300773.2:p.Ter313CysextTer17
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72430A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3187A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1224A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88072A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1224A>T
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ter313CysextTer17
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-5363831-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363831
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363831
    reference: chr 11
allele count: 1
allele frequency: 8.975693821132374e-6
allele num: 111412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3172T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60650T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1239T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.924T>G
  hgvsp: ENSP00000300773.2:p.His308Gln
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3172T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88087T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72445T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1239T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His308Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-5363832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363832
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363832
    reference: chr 11
allele count: 1
allele frequency: 8.966679817797066e-6
allele num: 111524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72446A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88088A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1240A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3171A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3171A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60651A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.923A>G
  hgvsp: ENSP00000300773.2:p.His308Arg
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1240A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His308Arg
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: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-5363834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363834
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363834
    reference: chr 11
allele count: 1
allele frequency: 8.954315084439191e-6
allele num: 111678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3169C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3169C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88090C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1242C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72448C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60653C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.921C>G
  hgvsp: ENST00000300773.2:c.921C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1242C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr307Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-5363835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363835
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363835
    reference: chr 11
allele count: 1
allele frequency: 8.94598414771609e-6
allele num: 111782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3168C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1243C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72449C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88091C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1243C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60654C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.920C>T
  hgvsp: ENSP00000300773.2:p.Thr307Ile
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3168C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr307Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

11-5363837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363837
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363837
    reference: chr 11
allele count: 1
allele frequency: 8.9268179464748e-6
allele num: 112022
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.918T>C
  hgvsp: ENST00000300773.2:c.918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72451T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3166T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60656T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3166T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1245T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88093T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1245T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr306Thr
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-5363838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363838
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363838
    reference: chr 11
allele count: 2
allele frequency: 1.784758165268606e-5
allele num: 112060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1246C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60657C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3165C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88094C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1246C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72452C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.917C>T
  hgvsp: ENSP00000300773.2:p.Thr306Ile
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3165C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7685
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr306Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-5363839-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363839
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363840
    reference: chr 11
allele count: 4
allele frequency: 3.566461000748956e-5
allele num: 112156
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1248dupT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.915dupT
  hgvsp: ENSP00000300773.2:p.Thr306TyrfsTer4
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1248dupT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3163dupT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72454dupT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88096dupT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60659dupT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3163dupT
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7686
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr306TyrfsTer4
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-5363841-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363841
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363841
    reference: chr 11
allele count: 1
allele frequency: 8.896480552293512e-6
allele num: 112404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1249T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3162T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.914T>C
  hgvsp: ENSP00000300773.2:p.Phe305Ser
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3162T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72455T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60660T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88097T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1249T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe305Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-5363849-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363849
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363849
    reference: chr 11
allele count: 1
allele frequency: 8.801577242641881e-6
allele num: 113616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3154T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60668T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1257T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.906T>G
  hgvsp: ENST00000300773.2:c.906T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88105T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1257T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3154T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72463T>G
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu302Leu
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: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

11-5363851-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363851
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363851
    reference: chr 11
allele count: 1
allele frequency: 8.781173164734809e-6
allele num: 113880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88107C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72465C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3152C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.904C>G
  hgvsp: ENSP00000300773.2:p.Leu302Val
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1259C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1259C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60670C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3152C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu302Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/11-5363867-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363867
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363867
    reference: chr 11
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.888G>T
  hgvsp: ENSP00000300773.2:p.Gln296His
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3136G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3136G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1275G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60686G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1275G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88123G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72481G>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln296His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-5363869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363869
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363869
    reference: chr 11
allele count: 4
allele frequency: 3.422430610219378e-5
allele num: 116876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88125C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3134C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1277C>T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.886C>T
  hgvsp: ENSP00000300773.2:p.Gln296Ter
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60688C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1277C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3134C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72483C>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27915
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln296Ter
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

11-5363871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363871
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363871
    reference: chr 11
allele count: 35
allele frequency: 2.981463813547771e-4
allele num: 117392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.884A>G
  hgvsp: ENSP00000300773.2:p.Lys295Arg
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60690A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1279A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1279A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72485A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88127A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3132A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3132A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26119
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7524
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys295Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

11-5363873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363873
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363873
    reference: chr 11
allele count: 52
allele frequency: 4.416135881104034e-4
allele num: 117750
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3130C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60692C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1281C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72487C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.882C>T
  hgvsp: ENST00000300773.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88129C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3130C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1281C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr294Thr
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-5363880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363880
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363880
    reference: chr 11
allele count: 2
allele frequency: 1.681350460690026e-5
allele num: 118952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3123T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88136T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1288T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60699T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1288T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.875T>C
  hgvsp: ENSP00000300773.2:p.Val292Ala
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3123T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72494T>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val292Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-5363881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363881
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363881
    reference: chr 11
allele count: 6
allele frequency: 5.037360423138276e-5
allele num: 119110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1289G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3122G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.874G>A
  hgvsp: ENSP00000300773.2:p.Val292Ile
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60700G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3122G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88137G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1289G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72495G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val292Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

11-5363882-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363882
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363882
    reference: chr 11
allele count: 1
allele frequency: 8.381246123673667e-6
allele num: 119314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3121T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1290T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3121T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.873T>C
  hgvsp: ENST00000300773.2:c.873T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72496T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60701T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88138T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1290T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser291Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

11-5363885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363885
    reference: chr 11
allele count: 4
allele frequency: 3.342078438580953e-5
allele num: 119686
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60704T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1293T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72499T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.870T>C
  hgvsp: ENST00000300773.2:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88141T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3118T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3118T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1293T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr290Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

11-5363893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363893
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363893
    reference: chr 11
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1301A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72507A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3110A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1301A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.862A>G
  hgvsp: ENSP00000300773.2:p.Ile288Val
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60712A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88149A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3110A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile288Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-5363895-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363895
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363895
    reference: chr 11
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3108C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1303C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1303C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88151C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72509C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.860C>G
  hgvsp: ENSP00000300773.2:p.Pro287Arg
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60714C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3108C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro287Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

11-5363905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363905
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363905
    reference: chr 11
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1313C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3098C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88161C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1313C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.850C>T
  hgvsp: ENST00000300773.2:c.850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60724C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72519C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3098C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu284Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

11-5363907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363907
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363907
    reference: chr 11
allele count: 3
allele frequency: 2.480404802063697e-5
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3096C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60726C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1315C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.848C>T
  hgvsp: ENSP00000300773.2:p.Pro283Leu
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88163C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1315C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3096C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72521C>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro283Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-5363909-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363909
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363909
    reference: chr 11
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3094T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88165T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60728T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72523T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3094T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1317T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1317T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.846T>C
  hgvsp: ENST00000300773.2:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro282Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-5363910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363910
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363910
    reference: chr 11
allele count: 3
allele frequency: 2.479871707970308e-5
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3093C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1318C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.845C>T
  hgvsp: ENSP00000300773.2:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1318C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60729C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72524C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88166C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3093C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7707
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro282Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

11-5363912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363912
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363912
    reference: chr 11
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72526C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1320C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3091C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60731C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.843C>T
  hgvsp: ENST00000300773.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1320C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3091C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88168C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7709
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe281Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

11-5363915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363915
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363915
    reference: chr 11
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.840G>C
  hgvsp: ENST00000300773.2:c.840G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88171G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3088G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72529G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3088G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1323G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60734G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1323G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu280Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

11-5363919-A-AAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363919
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363922
    reference: chr 11
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: AAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88178_63-88176dupATT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72536_-266-72534dupATT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.833_835dupATT
  hgvsp: ENSP00000300773.2:p.Tyr278dup
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3081_299+3083dupATT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60741_-309-60739dupATT
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3081_-438+3083dupATT
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1330_339-1328dupATT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1330_557-1328dupATT
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7715
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr278dup
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

11-5363925-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363925
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363925
    reference: chr 11
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60744C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88181C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.830C>G
  hgvsp: ENSP00000300773.2:p.Ala277Gly
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3078C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72539C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1333C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1333C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3078C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala277Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-5363926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363926
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363926
    reference: chr 11
allele count: 5
allele frequency: 4.128205551610826e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72540G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3077G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1334G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1334G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.829G>A
  hgvsp: ENSP00000300773.2:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60745G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3077G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88182G>A
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala277Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

11-5363932-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363932
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363932
    reference: chr 11
allele count: 11
allele frequency: 9.080402839689616e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88188A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72546A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3071A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1340A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1340A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60751A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.823A>T
  hgvsp: ENSP00000300773.2:p.Ser275Cys
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3071A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser275Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-5363933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363933
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363933
    reference: chr 11
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1341G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1341G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72547G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3070G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88189G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3070G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60752G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.822G>T
  hgvsp: ENSP00000300773.2:p.Met274Ile
  variant of: http://identifiers.org/hgnc/19599
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met274Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-5363937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363937
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363937
    reference: chr 11
allele count: 3
allele frequency: 2.476514388548598e-5
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.818T>C
  hgvsp: ENSP00000300773.2:p.Ile273Thr
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60756T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1345T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88193T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72551T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1345T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3066T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3066T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile273Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-5363938-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363938
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363938
    reference: chr 11
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3065A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88194A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72552A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1346A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3065A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.817A>C
  hgvsp: ENSP00000300773.2:p.Ile273Leu
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60757A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1346A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7730
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile273Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/11-5363945-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363945
    reference: chr 11
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3058T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1353T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.810T>G
  hgvsp: ENST00000300773.2:c.810T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60764T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3058T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88201T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1353T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72559T>G
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val270Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-5363949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363949
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363949
    reference: chr 11
allele count: 9
allele frequency: 7.429052548165024e-5
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3054T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1357T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3054T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.806T>G
  hgvsp: ENSP00000300773.2:p.Ile269Ser
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60768T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72563T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88205T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1357T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile269Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

11-5363949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363949
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363949
    reference: chr 11
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3054T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1357T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.806T>C
  hgvsp: ENSP00000300773.2:p.Ile269Thr
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88205T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1357T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60768T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72563T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3054T>C
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile269Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

11-5363952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363952
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363952
    reference: chr 11
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60771A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88208A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1360A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72566A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.803A>G
  hgvsp: ENSP00000300773.2:p.His268Arg
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3051A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1360A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3051A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7743
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His268Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-5363955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363955
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363955
    reference: chr 11
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1363C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3048C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88211C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1363C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60774C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3048C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.800C>T
  hgvsp: ENSP00000300773.2:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72569C>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro267Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-5363971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363971
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363971
    reference: chr 11
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1379T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88227T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3032T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.784T>C
  hgvsp: ENSP00000300773.2:p.Phe262Leu
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60790T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3032T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72585T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1379T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe262Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-5363973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363973
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363973
    reference: chr 11
allele count: 5
allele frequency: 4.131138872364333e-5
allele num: 121032
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.782G>A
  hgvsp: ENSP00000300773.2:p.Arg261His
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88229G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3030G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60792G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3030G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1381G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72587G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1381G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg261His
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

11-5363974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363974
    reference: chr 11
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.781C>T
  hgvsp: ENSP00000300773.2:p.Arg261Cys
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1382C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88230C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3029C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72588C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3029C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60793C>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg261Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-5363974-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363974
    reference: chr 11
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72588C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3029C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1382C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88230C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60793C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3029C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.781C>G
  hgvsp: ENSP00000300773.2:p.Arg261Gly
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1382C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg261Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-5363978-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363978
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363978
    reference: chr 11
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3025T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1386T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.777T>C
  hgvsp: ENST00000300773.2:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88234T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1386T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60797T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72592T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3025T>C
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile259Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-5363979-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363979
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363979
    reference: chr 11
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1387T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.776T>G
  hgvsp: ENSP00000300773.2:p.Ile259Ser
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60798T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88235T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72593T>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3024T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3024T>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1387T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile259Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-5363986-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363986
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363986
    reference: chr 11
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3017T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60805T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.769T>C
  hgvsp: ENSP00000300773.2:p.Ser257Pro
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72600T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1394T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1394T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3017T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88242T>C
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser257Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-5363989-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363989
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363989
    reference: chr 11
allele count: 4
allele frequency: 3.305785123966942e-5
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72603T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1397T>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60808T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.766T>A
  hgvsp: ENSP00000300773.2:p.Leu256Met
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3014T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88245T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3014T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1397T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu256Met
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: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

11-5363994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5363994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5363994
    reference: chr 11
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1402T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60813T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88250T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3009T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3009T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1402T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.761T>C
  hgvsp: ENSP00000300773.2:p.Ile254Thr
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72608T>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile254Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-5364003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5364003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5364003
    reference: chr 11
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1411T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+3000T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60822T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72617T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+3000T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.752T>C
  hgvsp: ENSP00000300773.2:p.Val251Ala
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88259T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1411T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15280
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val251Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-5364006-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5364006
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5364006
    reference: chr 11
allele count: 5
allele frequency: 4.136812668575116e-5
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.749A>C
  hgvsp: ENSP00000300773.2:p.Tyr250Ser
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+2997A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60825A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72620A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88262A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+2997A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1414A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1414A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7768
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Tyr250Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-5364013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5364013
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5364013
    reference: chr 11
allele count: 146
allele frequency: 1.208309194736407e-3
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.63-88269G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-309-60832G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.339-1421G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-438+2990G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.299+2990G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000242180
  ensembl protein: ENSP00000300773
  ensembl transcript: ENST00000300773
  gene symbol: OR51B5
  hgvsc: ENST00000300773.2:c.742G>A
  hgvsp: ENSP00000300773.2:p.Val248Ile
  variant of: http://identifiers.org/hgnc/19599
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.557-1421G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-266-72627G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val248Ile
num of homozygotes: 2
reference allele: C

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12740
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.596933886937081e-4
allele num: 6262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.039e1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e0

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

QD
type: SiteQuality
SIO_000300: 3.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 1.062607e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 3102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34894
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.549459514582908e-5
allele num: 39224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 1.64257555847569e-3
allele num: 6088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.61117e5

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.170363476552401e-5
allele num: 38682
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.348961821835231e-4
allele num: 5972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 8.55328e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

GenotypeQuality
all individuals: 3144
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.8328611898017e-5
allele num: 35300
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 2.233e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 7.88052e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 33828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 894
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.861066605630579e-5
allele num: 34952
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele 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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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SIO_000300: -1.84e-2

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.540832049306626e-4
allele num: 6490
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

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

BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 9.8e-3

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

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

African
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allele frequency: 2.120890774125132e-4
allele num: 9430
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61936
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.612383102225089e-5
allele num: 62020
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

South Asian
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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
allele num: 8072
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.06e0

BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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SIO_000300: 0.0e0

MQ
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MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.457933e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

East Asian
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allele count: 2
allele frequency: 2.48015873015873e-4
allele num: 8064
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

DP
type: SiteQuality
SIO_000300: 1.460829e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.44433703882713e-5
allele num: 62070
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8078
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.467517e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.058425063505504e-4
allele num: 9448
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.885729518393461e-5
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62070
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
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Other
type: Population
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allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 62146
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
type: Population
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61025409809668e-5
allele num: 62102
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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DP
type: SiteQuality
SIO_000300: 1.493526e6

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

QD
type: SiteQuality
SIO_000300: 1.615e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590179054161498e-5
allele num: 62886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8934
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.22e-1

DP
type: SiteQuality
SIO_000300: 1.571846e6

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.1684e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587351979427918e-5
allele num: 62998
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

DP
type: SiteQuality
SIO_000300: 1.580233e6

QD
type: SiteQuality
SIO_000300: 8.92e0

GenotypeQuality
all individuals: 3011
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.563e1

QD
type: SiteQuality
SIO_000300: 1.154e1

FS
type: SiteQuality
SIO_000300: 2.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.735e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 1.587748e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.413e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 182
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variant carriers: 0

Latino
type: Population
allele count: 14
allele frequency: 1.231743797290164e-3
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 288
allele frequency: 3.005008347245409e-2
allele num: 9584
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582979801177737e-5
allele num: 63172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.56e0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.067e1

QD
type: SiteQuality
SIO_000300: 1.746e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 1.595326e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.608717e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

FS
type: SiteQuality
SIO_000300: 3.629e0

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4093
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GenotypeQuality
all individuals: 95
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63758
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186802753382388e-4
allele num: 8426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.73e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 1.622048e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 4.11e0

VQSLOD
type: SiteQuality
SIO_000300: -4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563330519338399e-5
allele num: 63966
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.122e1

DP
type: SiteQuality
SIO_000300: 1.630759e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64372
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.298e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.644378e6

QD
type: SiteQuality
SIO_000300: 1.065e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55269859014968e-5
allele num: 64404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 1.082e0

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25742
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 1.178e1

VQSLOD
type: SiteQuality
SIO_000300: -8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.647153e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64476
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.900990099009902e-5
allele num: 10100
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.148e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.684e0

DP
type: SiteQuality
SIO_000300: 1.648007e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.012145748987854e-4
allele num: 9880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64534
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.64975e6

MQRankSum
type: SiteQuality
SIO_000300: -1.313e0

QD
type: SiteQuality
SIO_000300: 1.456e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.098373353989156e-5
allele num: 64550
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 1.650525e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.477e0

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.491620111731844e-4
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 2.645e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.05e-1

DP
type: SiteQuality
SIO_000300: 1.651801e6

QD
type: SiteQuality
SIO_000300: 1.29e1

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: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.567546880979717e-5
allele num: 10452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 9.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 1.653622e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540357362908195e-5
allele num: 64920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
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: 10066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.34e-1

FS
type: SiteQuality
SIO_000300: 2.088e0

DP
type: SiteQuality
SIO_000300: 1.662613e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539361472861057e-5
allele num: 64962
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 7.647598654022637e-5
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European (Non-Finnish)
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Other
type: Population
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Latino
type: Population
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.460459564309162e-5
allele num: 13404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
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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: 10272
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.046736944732192e-5
allele num: 65644
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.757e0

QD
type: SiteQuality
SIO_000300: 1.118e1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 1.691318e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

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

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 35

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.539175856065003e-3
allele num: 13784
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 1.745e0

DP
type: SiteQuality
SIO_000300: 1.696239e6

GenotypeQuality
all individuals: 7736
bin: 9.75e1
variant carriers: 53

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 50
allele frequency: 5.826147751106968e-3
allele num: 8582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65810
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: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.423082396470756e-4
allele num: 14054
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.701797e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.483e0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

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

GenotypeQuality
all individuals: 141
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4241
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variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026542780182198e-5
allele num: 66082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

DP
type: SiteQuality
SIO_000300: 1.710917e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 7.5e0
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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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variant carriers: 0

GenotypeQuality
all individuals: 7700
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.984866123399302e-4
allele num: 8590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15034
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

DP
type: SiteQuality
SIO_000300: 1.713178e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.579e0

GenotypeQuality
all individuals: 2048
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 7646
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.590220113351786e-5
allele num: 15174
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.094e0

DP
type: SiteQuality
SIO_000300: 1.714521e6

FS
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

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

GenotypeQuality
all individuals: 2050
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 29522
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.589331952356292e-4
allele num: 15448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
type: SiteQuality
SIO_000300: 1.718236e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.237e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 1.0223e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 595
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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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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bin: 8.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3170
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.724698e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

FS
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.743e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.055e0

QD
type: SiteQuality
SIO_000300: 1.755e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 29978
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.713e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.146e0

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 1.726062e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7703
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.292999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.731142e6

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
all individuals: 259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
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 frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.839136831780285e-4
allele num: 16312
num of homozygotes: 0

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

BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

MQ
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.197e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

QD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.732599e6

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 1.224439818782907e-4
allele num: 16334
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

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

East Asian
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allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 1.53e0

DP
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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SIO_000300: 1.51e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
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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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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

DP
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SIO_000300: 1.733447e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.778e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.97e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.298e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.734033e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.529e1

ClippingRankSum
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.201e0

BaseQRankSum
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SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.734453e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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: 10398
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.47e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
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 frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16430
num of homozygotes: 0

Latino
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allele frequency: 9.535367545076283e-4
allele num: 11536
num of homozygotes: 0

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

East Asian
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allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 1.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
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SIO_000300: 1.73652e6

QD
type: SiteQuality
SIO_000300: 1.349e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.528e1

DP
type: SiteQuality
SIO_000300: 1.736822e6

FS
type: SiteQuality
SIO_000300: 2.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.234e0

ClippingRankSum
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SIO_000300: -1.573e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

DP
type: SiteQuality
SIO_000300: 1.736897e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66644
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: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 3.203e0

DP
type: SiteQuality
SIO_000300: 1.737485e6

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.562008469449486e-4
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.002220821704031e-5
allele num: 66642
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.738075e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 2.447e0

QD
type: SiteQuality
SIO_000300: 1.532e1

GenotypeQuality
all individuals: 3277
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.532e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 1.738075e6

FS
type: SiteQuality
SIO_000300: 2.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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East Asian
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allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.853e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.738056e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
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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

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

African
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Latino
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allele num: 11536
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.006907944135756e-5
allele num: 66590
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10386
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.071e0

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.975e1

DP
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VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

MQRankSum
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SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
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variant carriers: 1

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

South Asian
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allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
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FS
type: SiteQuality
SIO_000300: 6.071e0

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: -2.97e0

FS
type: SiteQuality
SIO_000300: 1.903e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

BaseQRankSum
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SIO_000300: 6.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.735556e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 2.438e1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

FS
type: SiteQuality
SIO_000300: 4.581e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: -9.21e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.87e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

DP
type: SiteQuality
SIO_000300: 1.735545e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.123e1

DP
type: SiteQuality
SIO_000300: 1.734472e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

South Asian
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allele count: 4
allele frequency: 2.444688913335778e-4
allele num: 16362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 1.049e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.732344e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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 frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.51653638003608e-5
allele num: 66520
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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DP
type: SiteQuality
SIO_000300: 1.729588e6

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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ReadPosRankSum
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