12-53346587-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346587
    reference: chr 12
allele count: 3
allele frequency: 2.474839135456195e-5
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2019G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000447278
  ensembl transcript: ENST00000550600
  gene symbol: KRT18
  hgvsc: ENST00000550600.1:c.*457G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1254G>T
  hgvsp: ENST00000388835.3:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1254G>T
  hgvsp: ENST00000388837.2:c.1254G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000548496
  gene symbol: KRT18
  hgvsc: ENST00000548496.1:n.683G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.96C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11032
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val418Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

12-53346589-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346589
    reference: chr 12
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000548496
  gene symbol: KRT18
  hgvsc: ENST00000548496.1:n.685T>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000447278
  ensembl transcript: ENST00000550600
  gene symbol: KRT18
  hgvsc: ENST00000550600.1:c.*459T>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2021T>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1256T>A
  hgvsp: ENSP00000373487.3:p.Val419Glu
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1256T>A
  hgvsp: ENSP00000373489.2:p.Val419Glu
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.94A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11030
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val419Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-53346601-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346601
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346601
    reference: chr 12
allele count: 6
allele frequency: 4.955483242207502e-5
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2033A>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1268A>G
  hgvsp: ENSP00000373489.2:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.82T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1268A>G
  hgvsp: ENSP00000373487.3:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn423Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-53346616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346616
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346616
    reference: chr 12
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1283T>C
  hgvsp: ENSP00000373487.3:p.Leu428Pro
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.67A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1283T>C
  hgvsp: ENSP00000373489.2:p.Leu428Pro
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2048T>C
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11014
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu428Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-53346623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346623
    reference: chr 12
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2055T>C
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1290T>C
  hgvsp: ENST00000388837.2:c.1290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1290T>C
  hgvsp: ENST00000388835.3:c.1290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.64A>G
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
hgvs: n.64A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

12-53346623-T-TACTAAGTACAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346623
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346635
    reference: chr 12
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: TACTAAGTACAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.430_431insThrLysTyrSer
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

12-53346626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346626
    reference: chr 12
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2058A>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.1293A>G
  hgvsp: ENST00000388837.2:c.1293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.1293A>G
  hgvsp: ENST00000388835.3:c.1293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.61T>C
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11005
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ter431Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-53346628-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346628
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346628
    reference: chr 12
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*2C>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.59G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*2C>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2060C>G
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

12-53346629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346629
    reference: chr 12
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*3C>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2061C>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*3C>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.58G>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-53346639-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346638
    reference: chr 12
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*16delG
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.47delC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*16delG
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2074delG
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10986
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: AG
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-53346641-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346641
    reference: chr 12
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*15G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.46C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2073G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*15G>T
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10977
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

12-53346648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346648
    reference: chr 12
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.39A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2080T>C
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*22T>C
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*22T>C
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10955
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53346651-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346651
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346651
    reference: chr 12
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*25G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2083G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*25G>T
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.36C>A
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-53346653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346653
    reference: chr 12
allele count: 4
allele frequency: 3.343475208131332e-5
allele num: 119636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*27G>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*27G>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.34C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2085G>A
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10944
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

12-53346654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346654
    reference: chr 12
allele count: 2
allele frequency: 1.671905303283622e-5
allele num: 119624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*28G>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000111057
  ensembl transcript: ENST00000549078
  gene symbol: KRT18
  hgvsc: ENST00000549078.1:n.2086G>A
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.33C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*28G>A
  variant of: http://identifiers.org/hgnc/6430
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 21446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10939
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

12-53346667-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53346667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53346667
    reference: chr 12
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373489
  ensembl transcript: ENST00000388837
  gene symbol: KRT18
  hgvsc: ENST00000388837.2:c.*41A>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000111057
  ensembl protein: ENSP00000373487
  ensembl transcript: ENST00000388835
  gene symbol: KRT18
  hgvsc: ENST00000388835.3:c.*41A>G
  variant of: http://identifiers.org/hgnc/6430
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000225410
  ensembl transcript: ENST00000432903
  gene symbol: AC107016.1
  hgvsc: ENST00000432903.1:n.20T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-53400218-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400218
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400218
    reference: chr 12
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.153C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-50C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-50C>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54602
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-53400219-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400219
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400218
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-48delC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-48delC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.155delC
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34942
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: AC
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

12-53400223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400223
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-45G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.158G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34942
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-53400230-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400230
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400230
    reference: chr 12
allele count: 7
allele frequency: 5.797197469109219e-5
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.165T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-38T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-38T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34942
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54602
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-53400231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400231
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400231
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-37C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-37C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.166C>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34938
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54599
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-53400231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400231
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400231
    reference: chr 12
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-37C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-37C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.166C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34938
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54599
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53400237-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400237
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400237
    reference: chr 12
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-31G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.172G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.6G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-31G>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
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: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

12-53400239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400239
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-29T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.8T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-29T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.174T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54597
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

12-53400240-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400240
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.175C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.9C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-28C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-28C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-28C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-28C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54598
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-53400240-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400238
    reference: chr 12
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.178_179delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.12_13delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-25_-24delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-25_-24delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-25_-24delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-25_-24delTT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-25_-24delTT
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34936
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: CTT
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53400243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400243
    reference: chr 12
allele count: 89
allele frequency: 7.370966673292254e-4
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.12T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-25T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.178T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34959
  bin: 9.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

12-53400244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400244
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400244
    reference: chr 12
allele count: 13
allele frequency: 1.076640219965879e-4
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.13T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-24T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.179T>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34927
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54590
  bin: 9.75e1
  variant carriers: 13
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-53400247-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400247
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.182G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.16G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-21G>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-53400248-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400246
    reference: chr 12
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.21_22delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.187_188delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-16_-15delCT
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: TTC
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

12-53400250-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400250
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400250
    reference: chr 12
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.185C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-18C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.19C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

12-53400252-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400252
    reference: chr 12
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.187C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.21C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-16C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34925
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-53400252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400252
    reference: chr 12
allele count: 5
allele frequency: 4.141061105497672e-5
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.187C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-16C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.21C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34925
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-53400253-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400253
    reference: chr 12
allele count: 4
allele frequency: 3.312848884398138e-5
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.22T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.188T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-15T>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34923
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

12-53400256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400256
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400256
    reference: chr 12
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.191C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.25C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-12C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-53400258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400258
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400258
    reference: chr 12
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.27C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-10C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.193C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

12-53400260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400260
    reference: chr 12
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.195C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.29C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-53400263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400263
    reference: chr 12
allele count: 27
allele frequency: 2.23613595706619e-4
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.198C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.32C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-53400267-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400267
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400267
    reference: chr 12
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.202C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.36C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.-1C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-53400269-T-TGGCGGCCTCAGGTGAGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400287
    reference: chr 12
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: TGGCGGCCTCAGGTGAGCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-53400287-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400287
    reference: chr 12
allele count: 9
allele frequency: 7.453909989895811e-5
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+7G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+7G>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.13+7G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

12-53400287-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400287
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400287
    reference: chr 12
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+7G>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.13+7G>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/12-53400291-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400291
    reference: chr 12
allele count: 3
allele frequency: 2.484636663298604e-5
allele num: 120742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+11A>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34916
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

12-53400291-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400291
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400291
    reference: chr 12
allele count: 4
allele frequency: 3.312848884398138e-5
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+11A>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+11A>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34916
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-53400299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400299
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400299
    reference: chr 12
allele count: 3
allele frequency: 2.484677820109326e-5
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+19G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34912
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-53400301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400301
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400301
    reference: chr 12
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+21G>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34910
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-53400304-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400304
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400304
    reference: chr 12
allele count: 2
allele frequency: 1.656506758547575e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+24C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34909
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

12-53400308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400308
    reference: chr 12
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+28G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

12-53400311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400311
    reference: chr 12
allele count: 14
allele frequency: 1.159535523198993e-4
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+31T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+31T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34908
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-53400322-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400322
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400323
    reference: chr 12
allele count: 9
allele frequency: 7.455638948257866e-5
allele num: 120714
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+48dupC
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-53400323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400323
    reference: chr 12
allele count: 7
allele frequency: 5.80017566246292e-5
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+43C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34906
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

12-53400325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400325
    reference: chr 12
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+45C>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-53400325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400325
    reference: chr 12
allele count: 2
allele frequency: 1.656726308813784e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+45C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-53400327-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400327
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400327
    reference: chr 12
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+47C>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-53400327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400327
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400327
    reference: chr 12
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+47C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

12-53400330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400330
    reference: chr 12
allele count: 6
allele frequency: 4.970178926441352e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+50C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34905
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

12-53400332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53400332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53400332
    reference: chr 12
allele count: 11
allele frequency: 9.111994698475811e-5
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.49+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.215+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.13+52G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34904
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

12-53410209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410209
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410209
    reference: chr 12
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1482T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1482T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2373A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-48A>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

12-53410217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410217
    reference: chr 12
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1490C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1490C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2365G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-40G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

12-53410217-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410217
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410217
    reference: chr 12
allele count: 1
allele frequency: 8.340700952508049e-6
allele num: 119894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2365G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1490C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1490C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-40G>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-40G>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-53410221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410221
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410221
    reference: chr 12
allele count: 1
allele frequency: 8.335556148306214e-6
allele num: 119968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1494T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1494T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2361A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-36A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-36A>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

12-53410222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410222
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410222
    reference: chr 12
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1495A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1495A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2360T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-35T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-53410228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410228
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410228
    reference: chr 12
allele count: 3
allele frequency: 2.499000399840064e-5
allele num: 120048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1501T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2354A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1501T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-29A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-29A>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

12-53410232-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410232
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410232
    reference: chr 12
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1505T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1505T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2350A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-25A>G
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16093
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-53410234-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410234
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410233
    reference: chr 12
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1508delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2345delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1508delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-20delT
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16185
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: CT
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

12-53410235-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410235
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410235
    reference: chr 12
allele count: 3
allele frequency: 2.496754219514631e-5
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1508A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2347T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1508A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-22T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16206
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-53410241-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410241
    reference: chr 12
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1514A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1514A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-16T>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2341T>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-53410243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410243
    reference: chr 12
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1516C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2339G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1516C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-14G>A
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-14G>A
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

12-53410245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410245
    reference: chr 12
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1518G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1518G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2337C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-12C>T
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-53410252-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53410252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 53410252
    reference: chr 12
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000449746
  ensembl transcript: ENST00000549481
  gene symbol: EIF4B
  hgvsc: ENST00000549481.1:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000450324
  ensembl transcript: ENST00000552490
  gene symbol: EIF4B
  hgvsc: ENST00000552490.1:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448980
  ensembl transcript: ENST00000550390
  gene symbol: EIF4B
  hgvsc: ENST00000550390.1:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000447192
  ensembl transcript: ENST00000551002
  gene symbol: EIF4B
  hgvsc: ENST00000551002.1:c.14-2330A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448399
  ensembl transcript: ENST00000549077
  gene symbol: EIF4B
  hgvsc: ENST00000549077.1:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000388806
  ensembl transcript: ENST00000420463
  gene symbol: EIF4B
  hgvsc: ENST00000420463.3:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000448365
  ensembl transcript: ENST00000550704
  gene symbol: EIF4B
  hgvsc: ENST00000550704.1:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000412530
  ensembl transcript: ENST00000416762
  gene symbol: EIF4B
  hgvsc: ENST00000416762.3:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000549388
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000549388.1:n.182-1525T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000551527
  gene symbol: EIF4B
  hgvsc: ENST00000551527.1:n.263-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257337
  ensembl transcript: ENST00000552905
  gene symbol: RP11-983P16.4
  hgvsc: ENST00000552905.1:n.209-1525T>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl protein: ENSP00000262056
  ensembl transcript: ENST00000262056
  gene symbol: EIF4B
  hgvsc: ENST00000262056.9:c.14-5A>C
  variant of: http://identifiers.org/hgnc/3285
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000063046
  ensembl transcript: ENST00000549645
  gene symbol: EIF4B
  hgvsc: ENST00000549645.1:n.97-5A>C
  variant of: http://identifiers.org/hgnc/3285
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16834
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.14-5A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

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

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3684
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1599
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.114e1

FS
type: SiteQuality
SIO_000300: 2.852e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

MQ
type: SiteQuality
SIO_000300: 5.585e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 2.064458e6

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24263
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.764e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.336e0

FS
type: SiteQuality
SIO_000300: 4.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

DP
type: SiteQuality
SIO_000300: 2.063844e6

GenotypeQuality
all individuals: 11027
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.499625018749062e-5
allele num: 66670
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11566
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
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.444e-1

FS
type: SiteQuality
SIO_000300: 5.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 2.060537e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 5.721e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

GenotypeQuality
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variant carriers: 0

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: 6610
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.797e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 5.58e1

FS
type: SiteQuality
SIO_000300: 2.433e0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.054832e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.964e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.265e1

QD
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MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.024e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.049337e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.27e0

DP
type: SiteQuality
SIO_000300: 2.049337e6

MQ
type: SiteQuality
SIO_000300: 4.265e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.64e1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e0

MQ
type: SiteQuality
SIO_000300: 5.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

FS
type: SiteQuality
SIO_000300: 2.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 2.044607e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4789
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
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: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.52e1

DP
type: SiteQuality
SIO_000300: 2.044121e6

QD
type: SiteQuality
SIO_000300: 1.421e1

VQSLOD
type: SiteQuality
SIO_000300: -1.304e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8812
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.373e1

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 2.754e0

DP
type: SiteQuality
SIO_000300: 2.042335e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016053647632595e-4
allele num: 9842
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.029036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.387e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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: 8572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.022346e6

VQSLOD
type: SiteQuality
SIO_000300: -2.624e0

FS
type: SiteQuality
SIO_000300: 1.387e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.247e1

MQ
type: SiteQuality
SIO_000300: 5.618e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.026483268322726e-4
allele num: 9742
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.389e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.007702e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.418e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

MQ
type: SiteQuality
SIO_000300: 5.388e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.715e0

DP
type: SiteQuality
SIO_000300: 1.998467e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 11480
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65982
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.13393964448119e-4
allele num: 9676
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.349e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.986197e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3065
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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
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European (Non-Finnish)
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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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Latino
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allele num: 11480
num of homozygotes: 0

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

South Asian
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allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.647e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.985377e6

FS
type: SiteQuality
SIO_000300: 1.808e1

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 2.233e0

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.917365e6

QD
type: SiteQuality
SIO_000300: 7.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -7.365e-1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.526e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.396e0

FS
type: SiteQuality
SIO_000300: 1.3692e1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 5.952165e6

VQSLOD
type: SiteQuality
SIO_000300: -3.101e0

QD
type: SiteQuality
SIO_000300: 2.43e0

GenotypeQuality
all individuals: 827
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.5e1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 1.835e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.064e0

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 5.952153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

DP
type: SiteQuality
SIO_000300: 5.952195e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

FS
type: SiteQuality
SIO_000300: 8.006e0

VQSLOD
type: SiteQuality
SIO_000300: -8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.471e0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.82e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 5.952319e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

FS
type: SiteQuality
SIO_000300: 7.592e0

VQSLOD
type: SiteQuality
SIO_000300: -5.728e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.381e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

DP
type: SiteQuality
SIO_000300: 5.951968e6

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.381e0

DP
type: SiteQuality
SIO_000300: 5.951968e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54597
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 5.951886e6

FS
type: SiteQuality
SIO_000300: 6.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.04e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 5.951878e6

FS
type: SiteQuality
SIO_000300: 3.322e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.517e0

DP
type: SiteQuality
SIO_000300: 5.951865e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
type: SiteQuality
SIO_000300: 5.951865e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
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GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 88

GenotypeQuality
all individuals: 838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 83
allele frequency: 8.467659661293614e-3
allele num: 9802
num of homozygotes: 1

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

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.44e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

QD
type: SiteQuality
SIO_000300: 1.406e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.198968886757389e-4
allele num: 66724
num of homozygotes: 0

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

European (Finnish)
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allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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
type: SiteQuality
SIO_000300: 4.32e-1

QD
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InbreedingCoeff
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SIO_000300: 6.8e-3

ClippingRankSum
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SIO_000300: 1.16e-1

VQSLOD
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DP
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SIO_000300: 5.951089e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

FS
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
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SIO_000300: 3.76e0

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

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

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

African
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allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

DP
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VQSLOD
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MQRankSum
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FS
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QD
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BaseQRankSum
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SIO_000300: 2.89e0

ReadPosRankSum
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SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

MQRankSum
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SIO_000300: 9.93e-1

FS
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SIO_000300: 2.622e0

DP
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.05e0

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 5.950626e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.924e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 5.95074e6

InbreedingCoeff
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SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.028467595396729e-4
allele num: 16510
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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 frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 2.422774076317383e-4
allele num: 16510
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VQSLOD
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 3.011e0

DP
type: SiteQuality
SIO_000300: 5.950188e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.488e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.157e0

GenotypeQuality
all individuals: 837
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1382
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 5.950201e6

FS
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.929e0

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

GenotypeQuality
all individuals: 532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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variant carriers: 0

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: 898
num of homozygotes: 0

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

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

African
type: Population
allele count: 22
allele frequency: 2.244439910222404e-3
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 5.951352e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

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

GenotypeQuality
all individuals: 9
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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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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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bin: 8.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.042e0

DP
type: SiteQuality
SIO_000300: 5.949716e6

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

GenotypeQuality
all individuals: 54587
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 837
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.741e0

VQSLOD
type: SiteQuality
SIO_000300: -9.704e-1

FS
type: SiteQuality
SIO_000300: 1.981e0

MQRankSum
type: SiteQuality
SIO_000300: -6.134e0

DP
type: SiteQuality
SIO_000300: 5.949557e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeDepth
all individuals: 2901
bin: 9.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348839997602062e-4
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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
allele num: 9802
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: 1.079e1

InbreedingCoeff
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SIO_000300: 3.3e-3

MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 5.948845e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

DP
type: SiteQuality
SIO_000300: 5.948845e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 5.948582e6

ClippingRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.1e1

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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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

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

African
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allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

DP
type: SiteQuality
SIO_000300: 5.948582e6

QD
type: SiteQuality
SIO_000300: 1.1e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (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
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
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SIO_000300: -1.29e-1

ReadPosRankSum
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SIO_000300: 3.0e-2

DP
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BaseQRankSum
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SIO_000300: -3.149e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.31e0

QD
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SIO_000300: 1.208e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.896e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.02e-1

DP
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SIO_000300: 5.947669e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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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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
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.43e1

FS
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 5.947386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -3.111e0

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.947055e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 9.74e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199364336901442e-4
allele num: 66702
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498275396658768e-5
allele num: 66682
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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SIO_000300: 5.5e-2

DP
type: SiteQuality
SIO_000300: 5.94412e6

GenotypeQuality
all individuals: 814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 7.258e0

DP
type: SiteQuality
SIO_000300: 5.942917e6

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54577
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 5.942917e6

FS
type: SiteQuality
SIO_000300: 7.258e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54578
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 5.942709e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.819e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54578
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

DP
type: SiteQuality
SIO_000300: 5.942709e6

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 7.45e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54577
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99592277251469e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.202e0

QD
type: SiteQuality
SIO_000300: 1.301e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

DP
type: SiteQuality
SIO_000300: 5.942014e6

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54579
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.847309743092584e-4
allele num: 16504
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 4.058e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.024e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

QD
type: SiteQuality
SIO_000300: 1.342e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 5.941704e6

GenotypeDepth
all individuals: 2475
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 788
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1529
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16602
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
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: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.878645e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

FS
type: SiteQuality
SIO_000300: 4.049e0

VQSLOD
type: SiteQuality
SIO_000300: -4.904e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

MQ
type: SiteQuality
SIO_000300: 5.128e1

GenotypeDepth
all individuals: 911
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele 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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Other
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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VQSLOD
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MQ
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QD
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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SIO_000300: -9.48e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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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
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -1.502e0

QD
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SIO_000300: 1.497e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
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GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.823486506199854e-4
allele num: 16452
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

FS
type: SiteQuality
SIO_000300: 7.485e0

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

MQ
type: SiteQuality
SIO_000300: 5.13e1

DP
type: SiteQuality
SIO_000300: 1.933443e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 619
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.939875e6

MQ
type: SiteQuality
SIO_000300: 5.816e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
SIO_000300: -1.994e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10965
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.886e0

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.145e1

BaseQRankSum
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SIO_000300: -3.184e0

ReadPosRankSum
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SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 8.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

DP
type: SiteQuality
SIO_000300: 1.942127e6

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4863
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variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.281e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 2.921e0

VQSLOD
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SIO_000300: -1.314e0

DP
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SIO_000300: 1.944938e6

QD
type: SiteQuality
SIO_000300: 5.72e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 485
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2975
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
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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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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 10975
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24305
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.489e1

FS
type: SiteQuality
SIO_000300: 1.028e0

ClippingRankSum
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SIO_000300: -1.15e-1

DP
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SIO_000300: 1.949573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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